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Items: 1 to 50 of 124

1.

Neutrophil Functions in Immunodeficiency Due to DOCK8 Deficiency.

Mandola AB, Levy J, Nahum A, Hadad N, Levy R, Rylova A, Simon AJ, Lev A, Somech R, Broides A.

Immunol Invest. 2019 Jan 28:1-9. doi: 10.1080/08820139.2019.1567533. [Epub ahead of print]

PMID:
30689480
2.

Proteome analysis of human neutrophil granulocytes from patients with monogenic disease using data-independent acquisition.

Grabowski P, Hesse S, Hollizeck S, Rohlfs M, Behrends U, Sherkat R, Tamary H, Ünal E, Somech R, Patıroğlu T, Canzar S, van der Werff Ten Bosch J, Klein C, Rappsilber J.

Mol Cell Proteomics. 2019 Jan 10. pii: mcp.RA118.001141. doi: 10.1074/mcp.RA118.001141. [Epub ahead of print]

3.

Altered T cell receptor beta repertoire patterns in pediatric ulcerative colitis.

Werner L, Nunberg MY, Rechavi E, Lev A, Braun T, Haberman Y, Lahad A, Shteyer E, Schvimer M, Somech R, Weiss B, Lee YN, Shouval DS.

Clin Exp Immunol. 2019 Apr;196(1):1-11. doi: 10.1111/cei.13247. Epub 2019 Jan 27.

PMID:
30556140
4.

Leucocyte adhesion deficiency-A multicentre national experience.

Wolach B, Gavrieli R, Wolach O, Stauber T, Abuzaitoun O, Kuperman A, Amir Y, Stepensky P, Somech R, Etzioni A.

Eur J Clin Invest. 2019 Feb;49(2):e13047. doi: 10.1111/eci.13047. Epub 2019 Jan 4.

PMID:
30412664
5.

Intestinal Inflammation and Dysregulated Immunity in Patients With Inherited Caspase-8 Deficiency.

Lehle AS, Farin HF, Marquardt B, Michels BE, Magg T, Li Y, Liu Y, Ghalandary M, Lammens K, Hollizeck S, Rohlfs M, Hauck F, Conca R, Walz C, Weiss B, Lev A, Simon AJ, Groß O, Gaidt MM, Hornung V, Clevers H, Yazbeck N, Hanna-Wakim R, Shouval DS, Warner N, Somech R, Muise AM, Snapper SB, Bufler P, Koletzko S, Klein C, Kotlarz D.

Gastroenterology. 2019 Jan;156(1):275-278. doi: 10.1053/j.gastro.2018.09.041. Epub 2018 Sep 26. No abstract available.

PMID:
30267714
6.

T-cell defects in patients with ARPC1B germline mutations account for combined immunodeficiency.

Brigida I, Zoccolillo M, Cicalese MP, Pfajfer L, Barzaghi F, Scala S, Oleaga-Quintas C, Álvarez-Álvarez JA, Sereni L, Giannelli S, Sartirana C, Dionisio F, Pavesi L, Benavides-Nieto M, Basso-Ricci L, Capasso P, Mazzi B, Rosain J, Marcus N, Lee YN, Somech R, Degano M, Raiola G, Caorsi R, Picco P, Moncada Velez M, Khourieh J, Arias AA, Bousfiha A, Issekutz T, Issekutz A, Boisson B, Dobbs K, Villa A, Lombardo A, Neven B, Moshous D, Casanova JL, Franco JL, Notarangelo LD, Scielzo C, Volpi S, Dupré L, Bustamante J, Gattorno M, Aiuti A.

Blood. 2018 Nov 29;132(22):2362-2374. doi: 10.1182/blood-2018-07-863431. Epub 2018 Sep 25.

PMID:
30254128
7.

Combined Gastric and Pancreatic Tissue Inside a Meckel's Diverticulum.

Shemer A, Talmi L, Shouval DS, Har-Zahav G, Somech R.

Isr Med Assoc J. 2018 Jul;20(7):461-462. No abstract available.

8.

Correction to: Novel Mutations in RASGRP1 Are Associated with Immunodeficiency, Immune Dysregulation, and EBV-Induced Lymphoma.

Somekh I, Marquardt B, Liu Y, Rohlfs M, Hollizeck S, Karakukcu M, Unal E, Yilmaz E, Patiroglu T, Cansever M, Frizinsky S, Vishnvenskia-Dai V, Rechavi E, Stauber T, Simon AJ, Lev A, Klein C, Kotlarz D, Somech R.

J Clin Immunol. 2018 Aug;38(6):711. doi: 10.1007/s10875-018-0541-8.

PMID:
30099695
9.

MHC II deficient infant identified by newborn screening program for SCID.

Marcus N, Stauber T, Lev A, Simon AJ, Stein J, Broides A, Somekh I, Almashanu S, Somech R.

Immunol Res. 2018 Aug;66(4):537-542. doi: 10.1007/s12026-018-9019-2.

PMID:
30084052
10.

Novel Mutations in RASGRP1 are Associated with Immunodeficiency, Immune Dysregulation, and EBV-Induced Lymphoma.

Somekh I, Marquardt B, Liu Y, Rohlfs M, Hollizeck S, Karakukcu M, Unal E, Yilmaz E, Patiroglu T, Cansever M, Frizinsky S, Vishnvenska-Dai V, Rechavi E, Stauber T, Simon AJ, Lev A, Klein C, Kotlarz D, Somech R.

J Clin Immunol. 2018 Aug;38(6):699-710. doi: 10.1007/s10875-018-0533-8. Epub 2018 Jul 20. Erratum in: J Clin Immunol. 2018 Aug 11;:.

PMID:
30030704
11.

T+ NK+ IL-2 Receptor γ Chain Mutation: a Challenging Diagnosis of Atypical Severe Combined Immunodeficiency.

Stepensky P, Keller B, Shamriz O, von Spee-Mayer C, Friedmann D, Shadur B, Unger S, Fuchs S, NaserEddin A, Rumman N, Amro S, Molho Pessach V, Abuzaitoun O, Somech R, Elpeleg O, Ehl S, Warnatz K.

J Clin Immunol. 2018 May;38(4):527-536. doi: 10.1007/s10875-018-0514-y. Epub 2018 Jun 9.

PMID:
29948574
12.

Elevated IgM levels as a marker for a unique phenotype in patients with Ataxia telangiectasia.

Krauthammer A, Lahad A, Goldberg L, Sarouk I, Weiss B, Somech R, Soudack M, Pessach IM.

BMC Pediatr. 2018 Jun 4;18(1):185. doi: 10.1186/s12887-018-1156-1.

13.

Co-appearance of OPV and BCG vaccine-derived complications in two infants with severe combined immunodeficiency.

Heiman S, Weil M, Shulman LM, Simon AJ, Lev A, Somech R, Stauber T.

Immunol Res. 2018 Jun;66(3):437-443. doi: 10.1007/s12026-018-9007-6.

PMID:
29804197
14.

Genetic and Structural Analysis of a SKIV2L Mutation Causing Tricho-hepato-enteric Syndrome.

Vardi I, Barel O, Sperber M, Schvimer M, Nunberg M, Field M, Ouahed J, Marek-Yagel D, Werner L, Haberman Y, Lahad A, Anikster Y, Rechavi G, Barshack I, McElwee JJ, Maranville J, Somech R, Snapper SB, Weiss B, Shouval DS.

Dig Dis Sci. 2018 May;63(5):1192-1199. doi: 10.1007/s10620-018-4983-x. Epub 2018 Feb 26.

PMID:
29484573
15.

Analysis of Chronic Granulomatous Disease in the Kavkazi Population in Israel Reveals Phenotypic Heterogeneity in Patients with the Same NCF1 mutation (c.579G>A).

Wolach B, Gavrieli R, de Boer M, van Leeuwen K, Wolach O, Grisaru-Soen G, Broides A, Etzioni A, Somech R, Roos D.

J Clin Immunol. 2018 Feb;38(2):193-203. doi: 10.1007/s10875-018-0475-1. Epub 2018 Feb 6.

PMID:
29411231
16.

Long-term nutritional and gastrointestinal aspects in patients with ataxia telangiectasia.

Krauthammer A, Lahad A, Sarouk Y, Somech R, Nissenkorn A, Modan-Moses D, Levi-Kidron H, Sadeh-Kon T, Weiss B.

Nutrition. 2018 Feb;46:48-52. doi: 10.1016/j.nut.2017.08.008. Epub 2017 Aug 24.

PMID:
29290356
17.

First Year of Israeli Newborn Screening for Severe Combined Immunodeficiency-Clinical Achievements and Insights.

Rechavi E, Lev A, Simon AJ, Stauber T, Daas S, Saraf-Levy T, Broides A, Nahum A, Marcus N, Hanna S, Stepensky P, Toker O, Dalal I, Etzioni A, Almashanu S, Somech R.

Front Immunol. 2017 Nov 6;8:1448. doi: 10.3389/fimmu.2017.01448. eCollection 2017.

18.

Disruption of Thrombocyte and T Lymphocyte Development by a Mutation in ARPC1B.

Somech R, Lev A, Lee YN, Simon AJ, Barel O, Schiby G, Avivi C, Barshack I, Rhodes M, Yin J, Wang M, Yang Y, Rhodes J, Marcus N, Garty BZ, Stein J, Amariglio N, Rechavi G, Wiest DL, Zhang Y.

J Immunol. 2017 Dec 15;199(12):4036-4045. doi: 10.4049/jimmunol.1700460. Epub 2017 Nov 10.

19.

Corrigendum: Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Content.

Dobbs K, Tabellini G, Calzoni E, Patrizi O, Martinez P, Giliani SC, Moratto D, Al-Herz W, Cancrini C, Cowan M, Bleesing J, Booth C, Buchbinder D, Burns SO, Chatila TA, Chou J, Daza-Cajigal V, Ott de Bruin LM, de la Morena MT, Di Matteo G, Finocchi A, Geha R, Goyal RK, Hayward A, Holland S, Huang CH, Kanariou MG, King A, Kaplan B, Kleva A, Kuijpers TW, Lee BW, Lougaris V, Massaad M, Meyts I, Morsheimer M, Neven B, Pai SY, Parvaneh N, Plebani A, Prockop S, Reisli I, Soh JY, Somech R, Torgerson TR, Kim YJ, Walter JE, Gennery AR, Keles S, Manis JP, Marcenaro E, Moretta A, Parolini S, Notarangelo LD.

Front Immunol. 2017 Oct 10;8:1244. doi: 10.3389/fimmu.2017.01244. eCollection 2017.

20.

Patients with Primary Immunodeficiencies Are a Reservoir of Poliovirus and a Risk to Polio Eradication.

Aghamohammadi A, Abolhassani H, Kutukculer N, Wassilak SG, Pallansch MA, Kluglein S, Quinn J, Sutter RW, Wang X, Sanal O, Latysheva T, Ikinciogullari A, Bernatowska E, Tuzankina IA, Costa-Carvalho BT, Franco JL, Somech R, Karakoc-Aydiner E, Singh S, Bezrodnik L, Espinosa-Rosales FJ, Shcherbina A, Lau YL, Nonoyama S, Modell F, Modell V; JMF Centers Network Investigators and Study Collaborators, Barbouche MR, McKinlay MA.

Front Immunol. 2017 Jun 13;8:685. doi: 10.3389/fimmu.2017.00685. eCollection 2017.

21.

Characterization of T and B cell repertoire diversity in patients with RAG deficiency.

Lee YN, Frugoni F, Dobbs K, Tirosh I, Du L, Ververs FA, Ru H, Ott de Bruin L, Adeli M, Bleesing JH, Buchbinder D, Butte MJ, Cancrini C, Chen K, Choo S, Elfeky RA, Finocchi A, Fuleihan RL, Gennery AR, El-Ghoneimy DH, Henderson LA, Al-Herz W, Hossny E, Nelson RP, Pai SY, Patel NC, Reda SM, Soler-Palacin P, Somech R, Palma P, Wu H, Giliani S, Walter JE, Notarangelo LD.

Sci Immunol. 2016 Dec 16;1(6). pii: eaah6109. doi: 10.1126/sciimmunol.aah6109. Epub 2016 Dec 16.

22.

Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Content.

Dobbs K, Tabellini G, Calzoni E, Patrizi O, Martinez P, Giliani SC, Moratto D, Al-Herz W, Cancrini C, Cowan M, Bleesing J, Booth C, Buchbinder D, Burns SO, Chatila TA, Chou J, Daza-Cajigal V, Ott de Bruin LM, de la Morena M, Di Matteo G, Finocchi A, Geha R, Goyal RK, Hayward A, Holland S, Huang CH, Kanariou MG, King A, Kaplan B, Kleva A, Kuijpers TW, Lee BW, Lougaris V, Massaad M, Meyts I, Morsheimer M, Neven B, Pai SY, Parvaneh N, Plebani A, Prockop S, Reisli I, Soh JY, Somech R, Torgerson TR, Kim YJ, Walter JE, Gennery AR, Keles S, Manis JP, Marcenaro E, Moretta A, Parolini S, Notarangelo LD.

Front Immunol. 2017 Jul 17;8:798. doi: 10.3389/fimmu.2017.00798. eCollection 2017. Erratum in: Front Immunol. 2017 Oct 10;8:1244.

23.

Quantification of specific T and B cells immunological markers in children with chronic and transient ITP.

Levy-Mendelovich S, Lev A, Aviner S, Rosenberg N, Kaplinsky C, Sharon N, Miskin H, Dvir A, Kenet G, Schushan IE, Somech R.

Pediatr Blood Cancer. 2017 Dec;64(12). doi: 10.1002/pbc.26646. Epub 2017 May 22.

PMID:
28544224
24.

T and B cell clonal expansion in Ras-associated lymphoproliferative disease (RALD) as revealed by next-generation sequencing.

Levy-Mendelovich S, Lev A, Rechavi E, Barel O, Golan H, Bielorai B, Neumann Y, Simon AJ, Somech R.

Clin Exp Immunol. 2017 Sep;189(3):310-317. doi: 10.1111/cei.12986. Epub 2017 Jun 5.

25.

Survival of the fetus: fetal B and T cell receptor repertoire development.

Rechavi E, Somech R.

Semin Immunopathol. 2017 Nov;39(6):577-583. doi: 10.1007/s00281-017-0626-0. Epub 2017 May 2. Review.

PMID:
28466095
26.

"The Girl who Grew Horns": Temporal Swelling as an Atypical Presenting Symptom of Epstein-Barr Virus Infection.

Friedman N, Fradkin A, Somech R.

Isr Med Assoc J. 2016 Dec;18(12):761-762. No abstract available.

27.

Growth characteristics and endocrine abnormalities in 22q11.2 deletion syndrome.

Levy-Shraga Y, Gothelf D, Goichberg Z, Katz U, Somech R, Pinhas-Hamiel O, Modan-Moses D.

Am J Med Genet A. 2017 May;173(5):1301-1308. doi: 10.1002/ajmg.a.38175. Epub 2017 Feb 16.

PMID:
28421700
28.

The clinical and laboratory spectrum of dedicator of cytokinesis 8 immunodeficiency syndrome in patients with a unique mutation.

Broides A, Mandola AB, Levy J, Yerushalmi B, Pinsk V, Eldan M, Shubinsky G, Hadad N, Levy R, Nahum A, Ben-Harosh M, Lev A, Simon A, Somech R.

Immunol Res. 2017 Jun;65(3):651-657. doi: 10.1007/s12026-016-8883-x.

PMID:
28070732
29.

Immunological effects of nilotinib prophylaxis after allogeneic stem cell transplantation in patients with advanced chronic myeloid leukemia or philadelphia chromosome-positive acute lymphoblastic leukemia.

Varda-Bloom N, Danylesko I, Shouval R, Eldror S, Lev A, Davidson J, Rosenthal E, Volchek Y, Shem-Tov N, Yerushalmi R, Shimoni A, Somech R, Nagler A.

Oncotarget. 2017 Jan 3;8(1):418-429. doi: 10.18632/oncotarget.13439.

30.

Foscarnet-related Hypercalcemia During CMV Treatment in an Infant With SCID: A Case Report and Review of Literature.

Rabinowicz S, Somech R, Yeshayahu Y.

J Pediatr Hematol Oncol. 2017 Apr;39(3):e173-e175. doi: 10.1097/MPH.0000000000000682.

PMID:
27820135
31.

A Novel Mutation in a Critical Region for the Methyl Donor Binding in DNMT3B Causes Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome (ICF).

Rechavi E, Lev A, Eyal E, Barel O, Kol N, Barhom SF, Pode-Shakked B, Anikster Y, Somech R, Simon AJ.

J Clin Immunol. 2016 Nov;36(8):801-809. Epub 2016 Oct 12.

PMID:
27734333
32.

Chronic granulomatous disease: Clinical, functional, molecular, and genetic studies. The Israeli experience with 84 patients.

Wolach B, Gavrieli R, de Boer M, van Leeuwen K, Berger-Achituv S, Stauber T, Ben Ari J, Rottem M, Schlesinger Y, Grisaru-Soen G, Abuzaitoun O, Marcus N, Zion Garty B, Broides A, Levy J, Stepansky P, Etzioni A, Somech R, Roos D.

Am J Hematol. 2017 Jan;92(1):28-36. doi: 10.1002/ajh.24573. Epub 2016 Nov 18.

33.

G23D: Online tool for mapping and visualization of genomic variants on 3D protein structures.

Solomon O, Kunik V, Simon A, Kol N, Barel O, Lev A, Amariglio N, Somech R, Rechavi G, Eyal E.

BMC Genomics. 2016 Aug 26;17:681. doi: 10.1186/s12864-016-3028-0.

34.

Mutations in STN1 cause Coats plus syndrome and are associated with genomic and telomere defects.

Simon AJ, Lev A, Zhang Y, Weiss B, Rylova A, Eyal E, Kol N, Barel O, Cesarkas K, Soudack M, Greenberg-Kushnir N, Rhodes M, Wiest DL, Schiby G, Barshack I, Katz S, Pras E, Poran H, Reznik-Wolf H, Ribakovsky E, Simon C, Hazou W, Sidi Y, Lahad A, Katzir H, Sagie S, Aqeilan HA, Glousker G, Amariglio N, Tzfati Y, Selig S, Rechavi G, Somech R.

J Exp Med. 2016 Jul 25;213(8):1429-40. doi: 10.1084/jem.20151618. Epub 2016 Jul 18.

35.

[HOW TO APPROACH A PATIENT WITH SUSPECTED IMMUNODEFICIENCY].

Toker O, Aggmon-Levin N, Somech R.

Harefuah. 2016 Mar;155(3):170-6, 195. Review. Hebrew.

PMID:
27305752
36.

Combined immunodeficiency in a patient with mosaic monosomy 21.

Rechavi E, Levy-Mendelovich S, Stauber T, Shamash J, Reinstein S, Vernitsky H, Adam D, Simon AJ, Lev A, Raas-Rothschild A, Somech R.

Immunol Res. 2016 Aug;64(4):841-7. doi: 10.1007/s12026-016-8803-0.

PMID:
27216863
37.

Eruption of urticaria and angioedema induced by binging and purging in an anorexia nervosa patient.

Latzer IT, Agmon-Levin N, Somech R, Stein D.

Int J Eat Disord. 2016 Aug;49(8):822-5. doi: 10.1002/eat.22514. Epub 2016 Apr 1.

PMID:
27038089
38.

Thymus Activity, Vitamin D, and Respiratory Infections in Adolescent Swimmers.

Mayan I, Somech R, Lev A, Cohen AH, Constantini NW, Dubnov-Raz G.

Isr Med Assoc J. 2015 Sep;17(9):571-5.

39.

Liver Disease in Pediatric Patients With Ataxia Telangiectasia: A Novel Report.

Weiss B, Krauthammer A, Soudack M, Lahad A, Sarouk I, Somech R, Heimer G, Ben-Zeev B, Nissenkorn A.

J Pediatr Gastroenterol Nutr. 2016 Apr;62(4):550-5. doi: 10.1097/MPG.0000000000001036.

PMID:
26594831
40.

Highlighting the problematic reliance on CD18 for diagnosing leukocyte adhesion deficiency type 1.

Levy-Mendelovich S, Rechavi E, Abuzaitoun O, Vernitsky H, Simon AJ, Lev A, Somech R.

Immunol Res. 2016 Apr;64(2):476-82. doi: 10.1007/s12026-015-8706-5.

PMID:
26434744
41.

Severe congenital neutropenia with neurological impairment due to a homozygous VPS45 p.E238K mutation: A case report suggesting a genotype-phenotype correlation.

Meerschaut I, Bordon V, Dhooge C, Delbeke P, Vanlander AV, Simon A, Klein C, Kooy RF, Somech R, Callewaert B.

Am J Med Genet A. 2015 Dec;167A(12):3214-8. doi: 10.1002/ajmg.a.37367. Epub 2015 Sep 11.

PMID:
26358756
42.

Post-childhood Presentation and Diagnosis of DiGeorge Syndrome.

Friedman N, Rienstein S, Yeshayahu Y, Gothelf D, Somech R.

Clin Pediatr (Phila). 2016 Apr;55(4):368-73. doi: 10.1177/0009922815591090. Epub 2015 Jun 26.

PMID:
26116353
43.

Correlation between 'ACKR1/DARC null' polymorphism and benign neutropenia in Yemenite Jews.

Rappoport N, Simon AJ, Lev A, Yacobi M, Kaplinsky C, Weingarten M, Somech R, Amariglio N, Rechavi G.

Br J Haematol. 2015 Sep;170(6):892-5. doi: 10.1111/bjh.13345. Epub 2015 Mar 26. No abstract available.

PMID:
25817587
44.

Timely and spatially regulated maturation of B and T cell repertoire during human fetal development.

Rechavi E, Lev A, Lee YN, Simon AJ, Yinon Y, Lipitz S, Amariglio N, Weisz B, Notarangelo LD, Somech R.

Sci Transl Med. 2015 Feb 25;7(276):276ra25. doi: 10.1126/scitranslmed.aaa0072.

PMID:
25717098
45.

Thymic and bone marrow output in individuals with 22q11.2 deletion syndrome.

Dar N, Gothelf D, Korn D, Frisch A, Weizman A, Michaelovsky E, Carmel M, Yeshayahu Y, Dubnov-Raz G, Pessach IM, Simon AJ, Lev A, Somech R.

Pediatr Res. 2015 Apr;77(4):579-85. doi: 10.1038/pr.2015.14. Epub 2015 Jan 12.

PMID:
25580739
46.

Cytomegalovirus retinitis in HIV-negative patients: a practical management approach.

Vishnevskia-Dai V, Shapira Y, Rahav G, Shimoni A, Somech R, Moisseiev J.

Ophthalmology. 2015 Apr;122(4):866-868.e3. doi: 10.1016/j.ophtha.2014.11.010. Epub 2014 Dec 31. No abstract available.

PMID:
25556113
47.

Severe Prolonged Hypothyroidism: Clinical, Anatomical, Physiological, and Metabolic Features.

Yeshayahu Y, Frizinsky S, Somech R, Dubnov-Raz G.

Glob Pediatr Health. 2015 Mar 5;2:2333794X15574679. doi: 10.1177/2333794X15574679. eCollection 2015.

48.

Phase 1/2 study of nilotinib prophylaxis after allogeneic stem cell transplantation in patients with advanced chronic myeloid leukemia or Philadelphia chromosome-positive acute lymphoblastic leukemia.

Shimoni A, Volchek Y, Koren-Michowitz M, Varda-Bloom N, Somech R, Shem-Tov N, Yerushalmi R, Nagler A.

Cancer. 2015 Mar 15;121(6):863-71. doi: 10.1002/cncr.29141. Epub 2014 Nov 11.

49.

Hypoparathyroidism and central diabetes insipidus: in search of the link.

Eyal O, Oren A, Jüppner H, Somech R, De Bellis A, Mannstadt M, Szalat A, Bleiberg M, Weisman Y, Weintrob N.

Eur J Pediatr. 2014 Dec;173(12):1731-4. doi: 10.1007/s00431-014-2448-6. Epub 2014 Nov 4.

50.

Exome sequencing as a differential diagnosis tool: resolving mild trichohepatoenteric syndrome.

Oz-Levi D, Weiss B, Lahad A, Greenberger S, Pode-Shakked B, Somech R, Olender T, Tatarsky P, Marek-Yagel D, Pras E, Anikster Y, Lancet D.

Clin Genet. 2015 Jun;87(6):602-3. doi: 10.1111/cge.12494. Epub 2014 Oct 21. No abstract available.

PMID:
25335910

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