au.\*:("SEGEL, Reeval")
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Pulmomary Hypoplasia―Diaphragmatic ernia―Anophthalmia―Cardiac Defect (PDAC) Syndrome Due to STRA6 Mutations—What Are the Minimal Criteria?SEGEL, Reeval; LEVY-LAHAD, Ephrat; PASUTTO, Francesca et al.American journal of medical genetics. Part A. 2009, Vol 149, Num 11, pp 2457-2463, issn 1552-4825, 7 p.Article
Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7SAADA, Ann; EDVARDSON, Shimon; SHAAG, Avraham et al.Journal of inherited metabolic disease. 2012, Vol 35, Num 1, pp 125-131, issn 0141-8955, 7 p.Article
The natural history of trisomy 12pSEGEL, Reeval; PETER, Inga; DEMURRER, Laurie A et al.American journal of medical genetics. Part A. 2006, Vol 140, Num 7, pp 695-703, issn 1552-4825, 9 p.Article
Mutations in the Mitochondrial Seryl-tRNA Synthetase Cause Hyperuricemia, Pulmonary Hypertension, Renal Failure in Infancy and Alkalosis, HUPRA SyndromeBELOSTOTSKY, Ruth; BEN-SHALOM, Efrat; RINAT, Choni et al.American journal of human genetics. 2011, Vol 88, Num 2, pp 193-200, issn 0002-9297, 8 p.Article
Mutant Adenosine Deaminase 2 in a Polyarteritis Nodosa VasculopathyELKAN, Paulina Navon; PIERCE, Sarah B; VOTH, Isabel et al.The New England journal of medicine. 2014, Vol 370, Num 10, pp 921-931, issn 0028-4793, 11 p.Article
Acute Infantile Liver Failure Due to Mutations in the TRMU GeneZEHARIA, Avraham; SHAAG, Avraham; MAROM, Daphna et al.American journal of human genetics. 2009, Vol 85, Num 3, pp 401-407, issn 0002-9297, 7 p.Article
Prevalence of myotonic dystrophy in Israeli Jewish communities: Inter-community variation and founder premutationsSEGEL, Reeval; SILVERSTEIN, Shira; ABELIOVICH, Dvorah et al.American journal of medical genetics. 2003, Vol 119A, Num 3, pp 273-278, issn 0148-7299, 6 p.Article