Research output per year
Research output per year
- 1 - 50 out of 203 results
Search results
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2025
A novel mutation in FNIP1 associated with a syndromic immunodeficiency and cardiomyopathy
Spivak, I., Lev, A., Simon, A. J., Barel, O., Somekh, I. & Somech, R., Dec 2025, In: Immunogenetics. 77, 1, 2.Research output: Contribution to journal › Article › peer-review
Open Access -
2024
Biallelic hypomorphic variants in CAD cause uridine-responsive macrocytic anaemia with elevated haemoglobin-A2
Steinberg-Shemer, O., Yacobovich, J., Noy-Lotan, S., Dgany, O., Krasnov, T., Barg, A., Landau, Y. E., Kneller, K., Somech, R., Gilad, O., Brik Simon, D., Orenstein, N., Izraeli, S., del Caño-Ochoa, F., Tamary, H. & Ramón-Maiques, S., Mar 2024, In: British Journal of Haematology. 204, 3, p. 1067-1071 5 p.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations -
Combined Immunodeficiency Caused by a Novel Nonsense Mutation in LCK
Keller, B., Kfir-Erenfeld, S., Matusewicz, P., Hartl, F., Lev, A., Lee, Y. N., Simon, A. J., Stauber, T., Elpeleg, O., Somech, R., Stepensky, P., Minguet, S., Schraven, B. & Warnatz, K., Jan 2024, In: Journal of Clinical Immunology. 44, 1, 4.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations -
Evolution of Gene Therapy for Inborn Errors of Immunity
Somekh, I., Hendel, A. & Somech, R., 1 Jul 2024, In: JAMA Pediatrics. 178, 7, p. 645-646 2 p.Research output: Contribution to journal › Short survey › peer-review
1 Scopus citations -
Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome
van der Made, C. I., Kersten, S., Chorin, O., Engelhardt, K. R., Ramakrishnan, G., Griffin, H., Schim van der Loeff, I., Venselaar, H., Rothschild, A. R., Segev, M., Schuurs-Hoeijmakers, J. H. M., Mantere, T., Essers, R., Esteki, M. Z., Avital, A. L., Loo, P. S., Simons, A., Pfundt, R., Warris, A. & Seyger, M. M. & 14 others, , 4 Apr 2024, In: American Journal of Human Genetics. 111, 4, p. 791-804 14 p.Research output: Contribution to journal › Article › peer-review
Open Access2 Scopus citations -
Genotype-phenotype correlations in chronic granulomatous disease: insights from a large national cohort
Wolach, B., Gavrieli, R., Wolach, O., Salamon, P., de Boer, M., van Leeuwen, K., Abuzaitoun, O., Broides, A., Gottesman, G., Grisaru-Soen, G., Hagin, D., Marcus, N., Rottem, M., Schlesinger, Y., Stauber, T., Stepensky, P., Dinur-Schejter, Y., Zeeli, T., Hanna, S. & Etzioni, A. & 4 others, , 19 Sep 2024, In: Blood. 144, 12, p. 1300-1313 14 p.Research output: Contribution to journal › Article › peer-review
1 Scopus citations -
Helper T cell immunity in humans with inherited CD4 deficiency
Guérin, A., Moncada-Vélez, M., Jackson, K., Ogishi, M., Rosain, J., Mancini, M., Langlais, D., Nunez, A., Webster, S., Goyette, J., Khan, T., Marr, N., Avery, D. T., Rao, G., Waterboer, T., Michels, B., Neves, E., Morais, C. I., London, J. & Mestrallet, S. & 33 others, , 6 May 2024, In: Journal of Experimental Medicine. 221, 5, e20231044.Research output: Contribution to journal › Article › peer-review
Open Access3 Scopus citations -
Perspective - Was it All for Nothing?
Somech, R., Jun 2024, In: Journal of Clinical Immunology. 44, 5, 113.Research output: Contribution to journal › Comment/debate
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2023
A horse or a zebra? Unusual manifestations of common cutaneous infections in primary immunodeficiency pediatric patients
Ollech, A., Simon, A. J., Lev, A., Stauber, T., Sherman, G., Solomon, M., Barzilai, A., Somech, R. & Greenberger, S., 6 Mar 2023, In: Frontiers in Pediatrics. 11, 1103726.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations -
Can T-cell and B-cell excision circles predict development of inhibitors in pediatric hemophilia A?
Levy-Mendelovich, S., Lev, A., Avishai, E., Budnik, I., Dardik, R., Barg, A. A., Somech, R. & Kenet, G., May 2023, In: Pediatric Research. 93, 6, p. 1546-1550 5 p.Research output: Contribution to journal › Article › peer-review
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CRISPR-Cas9 engineering of the RAG2 locus via complete coding sequence replacement for therapeutic applications
Allen, D., Knop, O., Itkowitz, B., Kalter, N., Rosenberg, M., Iancu, O., Beider, K., Lee, Y. N., Nagler, A., Somech, R. & Hendel, A., Dec 2023, In: Nature Communications. 14, 1, 6771.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations -
Immunologic Heterogeneity in 2 Cartilage-Hair Hypoplasia Patients With a Distinct Clinical Course
Gamliel, A., Lee, Y. N., Lev, A., Abuzaitun, O., Rechavi, E., Levy, S., Simon, A. J. & Somech, R., 2023, In: Journal of Investigational Allergology and Clinical Immunology. 33, 4, p. 263-270 8 p.Research output: Contribution to journal › Article › peer-review
Open Access3 Scopus citations -
Improved Outcome Following Busulfan-Based Conditioning in Children with Functional Neutrophil Disorders Undergoing Hematopoietic Stem Cell Transplant from HLA-Matched Donors
Jacoby, E., Adam, E., Hutt, D., Somech, R., Malkiel, S., Toren, A. & Bielorai, B., Oct 2023, In: Journal of Clinical Immunology. 43, 7, p. 1603-1610 8 p.Research output: Contribution to journal › Article › peer-review
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Inadequate Activation of γδT- and B-cells in Patient with Wiskott-Aldrich Syndrome (WAS) Portrayed by TRG and IGH Repertoire Analyses
Palevski, D., Simon, A., Lev, A., Somech, R. & Lee, Y. N., Jan 2023, In: Journal of Clinical Immunology. 43, 1, p. 109-122 14 p.Research output: Contribution to journal › Article › peer-review
Open Access -
Inherited ARPC5 mutations cause an actinopathy impairing cell motility and disrupting cytokine signaling
Nunes-Santos, C. J., Kuehn, H. S., Boast, B., Hwang, S. J., Kuhns, D. B., Stoddard, J., Niemela, J. E., Fink, D. L., Pittaluga, S., Abu-Asab, M., Davies, J. S., Barr, V. A., Kawai, T., Delmonte, O. M., Bosticardo, M., Garofalo, M., Carneiro-Sampaio, M., Somech, R., Gharagozlou, M. & Parvaneh, N. & 8 others, , Dec 2023, In: Nature Communications. 14, 1, 3708.Research output: Contribution to journal › Article › peer-review
Open Access4 Scopus citations -
Multiplex HDR for disease and correction modeling of SCID by CRISPR genome editing in human HSPCs
Iancu, O., Allen, D., Knop, O., Zehavi, Y., Breier, D., Arbiv, A., Lev, A., Lee, Y. N., Beider, K., Nagler, A., Somech, R. & Hendel, A., 14 Mar 2023, In: Molecular Therapy Nucleic Acids. 31, p. 105-121 17 p.Research output: Contribution to journal › Article › peer-review
Open Access18 Scopus citations -
Newborn screening for severe combined immunodeficiency and inborn errors of immunity
Lev, A., Somech, R. & Somekh, I., 1 Dec 2023, In: Current Opinion in Pediatrics. 35, 6, p. 692-702 11 p.Research output: Contribution to journal › Review article › peer-review
5 Scopus citations -
SARS-CoV-2 spike antibody concentration in gamma globulin products from high-prevalence COVID-19 countries are transmitted to X-linked agammaglobulinemia patients
Raphael, A., Shamriz, O., Tvito, A., Magen, S., Goldberg, S., Megged, O., Lev, A., Simon, A. J., Tal, Y., Somech, R., Eisenberg, R. & Toker, O., 2023, In: Frontiers in Immunology. 14, 1156823.Research output: Contribution to journal › Article › peer-review
Open Access3 Scopus citations -
SLP76 Mutation Associated with Combined Immunodeficiency and EBV-Related Lymphoma
Lev, A., Asleh, M., Levy, S., Lee, Y. N., Simon, A. J., Stepensky, P., Nalbandyan, K., Nahum, A., Ben-Harosh, M., Yablonski, D., Broides, A. & Somech, R., Apr 2023, In: Journal of Clinical Immunology. 43, 3, p. 625-635 11 p.Research output: Contribution to journal › Article › peer-review
5 Scopus citations -
The contribution of medical burden to 22q11.2 deletion syndrome quality of life and functioning
Matalon, N., Shani, S., Weinberger, R., Serur, Y., Somech, R., Givon, U., Katz, U., Levy-Shraga, Y., Carmel, E., Weiss, B., Ben-Zeev, B., Hochberg, Y., Gur, R. E. & Gothelf, D., Oct 2023, In: Genetics in Medicine. 25, 10, 100924.Research output: Contribution to journal › Article › peer-review
Open Access -
2022
B cell repertoire in patients with a novel BTK mutation: expanding the spectrum of atypical X-linked agammaglobulinemia
Toker, O., Broides, A., Lev, A., Simon, A. J., Megged, O., Shamriz, O., Tal, Y., Somech, R., Lee, Y. N. & Nahum, A., Apr 2022, In: Immunologic Research. 70, 2, p. 216-223 8 p.Research output: Contribution to journal › Article › peer-review
2 Scopus citations -
Dominant-negative signal transducer and activator of transcription (STAT)3 variants in adult patients: A single center experience
Shamriz, O., Rubin, L., Simon, A. J., Lev, A., Barel, O., Somech, R., Korem, M., Matza Porges, S., Freund, T., Hagin, D., Garty, B. Z., Nahum, A., Molho Pessach, V. & Tal, Y., 20 Dec 2022, In: Frontiers in Immunology. 13, 1044933.Research output: Contribution to journal › Article › peer-review
Open Access4 Scopus citations -
GATA2 Deficiency in Adult Life Is Characterized by Phenotypic Diversity and Delayed Diagnosis
Shamriz, O., Zahalka, N., Simon, A. J., Lev, A., Barel, O., Mor, N., Tal, Y., Segel, M. J., Somech, R., Yonath, H. & Toker, O., 6 May 2022, In: Frontiers in Immunology. 13, 886117.Research output: Contribution to journal › Article › peer-review
Open Access3 Scopus citations -
Genetic workup as a complementary tool for the diagnosis of primary complement component deficiencies: a multicenter experience
Shamriz, O., Simon, A. J., Frizinsky, S., Lev, A., Megged, O., Barel, O., Marcus, N., Tal, Y., Somech, R. & Toker, O., May 2022, In: European Journal of Pediatrics. 181, 5, p. 1997-2004 8 p.Research output: Contribution to journal › Article › peer-review
1 Scopus citations -
Glycogen Storage Disease type IA refractory to cornstarch: Can next generation sequencing offer a solution?
Steg Saban, O., Pode-Shakked, B., Abu-Libdeh, B., Granot, M., Barkai, G., Haberman, Y., Roterman, I., Lahad, A., Shouval, D. S., Weiss, B., Marek-Yagel, D., Barel, O., Loberman-Nachum, N., Abraham, S., Somech, R., Weinstein, D. A. & Anikster, Y., Jun 2022, In: European Journal of Medical Genetics. 65, 6, 104518.Research output: Contribution to journal › Article › peer-review
1 Scopus citations -
Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee
Tangye, S. G., Al-Herz, W., Bousfiha, A., Cunningham-Rundles, C., Franco, J. L., Holland, S. M., Klein, C., Morio, T., Oksenhendler, E., Picard, C., Puel, A., Puck, J., Seppänen, M. R. J., Somech, R., Su, H. C., Sullivan, K. E., Torgerson, T. R. & Meyts, I., Oct 2022, In: Journal of Clinical Immunology. 42, 7, p. 1473-1507 35 p.Research output: Contribution to journal › Article › peer-review
Open Access570 Scopus citations -
Immune function in newborns with in-utero exposure to anti-TNFα therapy
Weiss, B., Ben-Horin, S., Lev, A., Broide, E., Yavzori, M., Lahat, A., Kopylov, U., Picard, O., Eliakim, R., Ron, Y., Avni-Biron, I., Yerushalmy-Feler, A., Assa, A., Somech, R. & Bar-Gil Shitrit, A., 31 Aug 2022, In: Frontiers in Pediatrics. 10, 935034.Research output: Contribution to journal › Article › peer-review
Open Access4 Scopus citations -
Lessons Learned From Five Years of Newborn Screening for Severe Combined Immunodeficiency in Israel
Lev, A., Sharir, I., Simon, A. J., Levy, S., Lee, Y. N., Frizinsky, S., Daas, S., Saraf-Levy, T., Broides, A., Nahum, A., Hanna, S., Stepensky, P., Toker, O., Dalal, I., Etzioni, A., Stein, J., Adam, E., Hendel, A., Marcus, N. & Almashanu, S. & 1 others, , Oct 2022, In: Journal of Allergy and Clinical Immunology: In Practice. 10, 10, p. 2722-2731.e9Research output: Contribution to journal › Article › peer-review
17 Scopus citations -
Novel NHEJ1 pathogenic variant linked to severe combined immunodeficiency, microcephaly, and abnormal T and B cell receptor repertoires
Frizinsky, S., Rechavi, E., Barel, O., Lee, Y. N., Simon, A. J., Lev, A., Stauber, T., Adam, E. & Somech, R., 27 Jul 2022, In: Frontiers in Pediatrics. 10, 883173.Research output: Contribution to journal › Article › peer-review
Open Access2 Scopus citations -
Prodromes as predictors of hereditary angioedema attacks
Leibovich-Nassi, I., Reshef, A., Somech, R. & Golander, H., Apr 2022, In: Allergy: European Journal of Allergy and Clinical Immunology. 77, 4, p. 1309-1312 4 p.Research output: Contribution to journal › Letter › peer-review
Open Access2 Scopus citations -
RIPK1 mutations causing infantile-onset IBD with inflammatory and fistulizing features
Sultan, M., Adawi, M., Kol, N., McCourt, B., Adawi, I., Baram, L., Tal, N., Werner, L., Lev, A., Snapper, S. B., Barel, O., Konnikova, L., Somech, R. & Shouval, D. S., 18 Nov 2022, In: Frontiers in Immunology. 13, 1041315.Research output: Contribution to journal › Article › peer-review
Open Access11 Scopus citations -
The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity
Bousfiha, A., Moundir, A., Tangye, S. G., Picard, C., Jeddane, L., Al-Herz, W., Rundles, C. C., Franco, J. L., Holland, S. M., Klein, C., Morio, T., Oksenhendler, E., Puel, A., Puck, J., Seppänen, M. R. J., Somech, R., Su, H. C., Sullivan, K. E., Torgerson, T. R. & Meyts, I., Oct 2022, In: Journal of Clinical Immunology. 42, 7, p. 1508-1520 13 p.Research output: Contribution to journal › Article › peer-review
254 Scopus citations -
2021
A novel zeta-associated protein 70 homozygous mutation causing combined immunodeficiency presenting as neonatal autoimmune hemolytic anemia
Ling, E., Broides, A., Ling, G., Shubinsky, G., Hadad, N., Nahum, A., Simon, A. J., Lev, A. & Somech, R., Feb 2021, In: Immunologic Research. 69, 1, p. 100-106 7 p.Research output: Contribution to journal › Article › peer-review
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Chronic demodicosis in patients with immune dysregulation: An unexpected infectious manifestation of Signal transducer and activator of transcription (STAT)1 gain-of-function
Shamriz, O., Lev, A., Simon, A. J., Barel, O., Javasky, E., Matza-Porges, S., Shaulov, A., Davidovics, Z., Toker, O., Somech, R., Zlotogorski, A., Molho-Pessach, V. & Tal, Y., Oct 2021, In: Clinical and Experimental Immunology. 206, 1, p. 56-67 12 p.Research output: Contribution to journal › Article › peer-review
Open Access7 Scopus citations -
Clinical Features in a Large Cohort of Patients With 22q11.2 Deletion Syndrome
Nissan, E., Katz, U., Levy-Shraga, Y., Frizinsky, S., Carmel, E., Gothelf, D. & Somech, R., Nov 2021, In: Journal of Pediatrics. 238, p. 215-220.e5Research output: Contribution to journal › Article › peer-review
11 Scopus citations -
Correction: Pediatric literature trends: high-level analysis using text-mining (Pediatric Research, (2021), 90, 1, (212-215), 10.1038/s41390-021-01415-8)
Levy-Mendelovich, S., Barbash, Y., Budnik, I., Levy-Erez, D., Somech, R., Soffer, S., Furth, S. & Klang, E., Jul 2021, In: Pediatric Research. 90, 1, p. 234 1 p.Research output: Contribution to journal › Comment/debate
Open Access -
Exploring genetic defects in adults who were clinically diagnosed as severe combined immune deficiency during infancy
Somekh, I., Lev, A., Barel, O., Lee, Y. N., Hendel, A., Simon, A. J. & Somech, R., Apr 2021, In: Immunologic Research. 69, 2, p. 145-152 8 p.Research output: Contribution to journal › Article › peer-review
4 Scopus citations -
Gastrointestinal Hemorrhage: A Manifestation of the Telomere Biology Disorders
Himes, R. W., Chiou, E. H., Queliza, K., Shouval, D. S., Somech, R., Agarwal, S., Jajoo, K., Ziegler, D. S., Kratz, C. P., Huang, J., Lucas, T. L., Myers, K. C., Nelson, A. S., DiNardo, C. D., Alter, B. P., Giri, N., Khincha, P. P., McReynolds, L. J., Dufour, C. & Pierri, F. & 5 others, , Mar 2021, In: Journal of Pediatrics. 230, p. 55-61.e4Research output: Contribution to journal › Article › peer-review
13 Scopus citations -
Herpes simplex encephalitis in a patient with a distinctive form of inherited IFNAR1 deficiency
Bastard, P., Manry, J., Chen, J., Rosain, J., Seeleuthner, Y., AbuZaitun, O., Lorenzo, L., Khan, T., Hasek, M., Hernandez, N., Bigio, B., Zhang, P., Lévy, R., Shrot, S., Reino, E. J. G., Lee, Y. S., Boucherit, S., Aubart, M., Gijsbers, R. & Béziat, V. & 14 others, , 4 Jan 2021, In: Journal of Clinical Investigation. 131, 1, e139980.Research output: Contribution to journal › Article › peer-review
Open Access74 Scopus citations -
Immune and TRG repertoire signature of the thymus in Down syndrome patients
Rabinowicz, S., Lev, A., Lee, Y. N., Machnes-Maayan, D., Katz, U., Vardi, A., Mishali, D. & Somech, R., Jan 2021, In: Pediatric Research. 89, 1, p. 102-109 8 p.Research output: Contribution to journal › Article › peer-review
4 Scopus citations -
Inherited SLP76 deficiency in humans causes severe combined immunodeficiency, neutrophil and platelet defects
Lev, A., Lee, Y. N., Sun, G., Hallumi, E., Simon, A. J., Zrihen, K. S., Levy, S., Beit Halevi, T., Papazian, M., Shwartz, N., Somekh, I., Levy-Mendelovich, S., Wolach, B., Gavrieli, R., Vernitsky, H., Barel, O., Javasky, E., Stauber, T., Ma, C. A. & Zhang, Y. & 6 others, , 1 Mar 2021, In: Journal of Experimental Medicine. 218, 3, e20201062.Research output: Contribution to journal › Article › peer-review
Open Access22 Scopus citations -
Mammalian VPS45 orchestrates trafficking through the endosomal system
Frey, L., Ziętara, N., Łyszkiewicz, M., Marquardt, B., Mizoguchi, Y., Linder, M. I., Liu, Y., Giesert, F., Wurst, W., Dahlhoff, M., Schneider, M. R., Wolf, E., Somech, R. & Klein, C., 8 Apr 2021, In: Blood. 137, 14, p. 1932-1944 13 p.Research output: Contribution to journal › Article › peer-review
Open Access16 Scopus citations -
Minor Clinical Impact of COVID-19 Pandemic on Patients With Primary Immunodeficiency in Israel
Marcus, N., Frizinsky, S., Hagin, D., Ovadia, A., Hanna, S., Farkash, M., Maoz-Segal, R., Agmon-Levin, N., Broides, A., Nahum, A., Rosenberg, E., Kuperman, A. A., Dinur-Schejter, Y., Berkun, Y., Toker, O., Goldberg, S., Confino-Cohen, R., Scheuerman, O., Badarneh, B. & Epstein-Rigbi, N. & 3 others, , 14 Jan 2021, In: Frontiers in Immunology. 11, 614086.Research output: Contribution to journal › Article › peer-review
Open Access89 Scopus citations -
New Instrument for the Evaluation of Prodromes and Attacks of Hereditary Angioedema (HAE-EPA)
Leibovich-Nassi, I., Golander, H., Somech, R., Har-Even, D. & Reshef, A., Aug 2021, In: Clinical Reviews in Allergy and Immunology. 61, 1, p. 29-39 11 p.Research output: Contribution to journal › Article › peer-review
6 Scopus citations -
Ophthalmic manifestations in Kabuki (make-up) syndrome: A single-center pediatric cohort and systematic review of the literature
Merdler-Rabinowicz, R., Prat, D., Pode-Shakked, B., Abel, G., Chorin, O., Somech, R. & Raas-Rothschild, A., Jun 2021, In: European Journal of Medical Genetics. 64, 6, 104210.Research output: Contribution to journal › Article › peer-review
5 Scopus citations -
Pediatric literature trends: high-level analysis using text-mining
Levy-Mendelovich, S., Barbash, Y., Budnik, I., Levy-Erez, D., Somech, R., Soffer, S., Furth, S. & Klang, E., Jul 2021, In: Pediatric Research. 90, 1, p. 212-215 4 p.Research output: Contribution to journal › Article › peer-review
Open Access2 Scopus citations -
The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee
Tangye, S. G., Al-Herz, W., Bousfiha, A., Cunningham-Rundles, C., Franco, J. L., Holland, S. M., Klein, C., Morio, T., Oksenhendler, E., Picard, C., Puel, A., Puck, J., Seppänen, M. R. J., Somech, R., Su, H. C., Sullivan, K. E., Torgerson, T. R. & Meyts, I., Apr 2021, In: Journal of Clinical Immunology. 41, 3, p. 666-679 14 p.Research output: Contribution to journal › Article › peer-review
Open Access181 Scopus citations -
Treatment options for DOCK8 deficiency-related severe dermatitis
Ollech, A., Mashiah, J., Lev, A., Simon, A. J., Somech, R., Adam, E., Barzilai, A., Hagin, D. & Greenberger, S., Sep 2021, In: Journal of Dermatology. 48, 9, p. 1386-1393 8 p.Research output: Contribution to journal › Article › peer-review
21 Scopus citations -
Trough concentrations of specific antibodies in primary immunodeficiency patients receiving intravenous immunoglobulin replacement therapy
Hassin, O., Freih, Y. A., Hazan, R., Lev, A., Zrihen, K. S., Somech, R., Broides, A. & Nahum, A., 2 Feb 2021, In: Journal of Clinical Medicine. 10, 4, p. 1-9 9 p., 592.Research output: Contribution to journal › Article › peer-review
Open Access4 Scopus citations -
Underperformed and Underreported Testing for Persistent Oropharyngeal Poliovirus Infections in Primary Immune Deficient Patients - Risk for Reemergence of Polioviruses
Shulman, L. M., Weil, M., Somech, R., Stauber, T., Indenbaum, V., Rahav, G., Mendelson, E. & Sofer, D., 1 Mar 2021, In: Journal of the Pediatric Infectious Diseases Society. 10, 3, p. 326-333 8 p.Research output: Contribution to journal › Review article › peer-review
1 Scopus citations