Founder BRCA1 and BRCA2 mutations in Ashkenazi Jews in Israel: frequency and differential penetrance in ovarian cancer and in breast-ovarian cancer families.

Ephrat Levy‐Lahad, Raphael Catane, Shlomit Eisenberg, +8

PubMed

Sensorineural deafness inherited as a tissue specific mitochondrial disorder.

Lutfi Jaber, M Shohat, Xingyao Bu, +4

Journal of Medical Genetics

GeneticsHereditary DeafnessNeurotologyMolecular GeneticsDisease Gene Identification +19

Perinatal lethal hypophosphatasia; Clinical, radiologic and morphologic findings

M Shohat, David L. Rimoin, Helen E. Gruber, +1

Pediatric Radiology

Perinatal Lethal HypophosphatasiaHistopathologyPediatricsFetal Complication

Retinopathy of prematurity: incidence and treatment.

S H Reisner, J Amir, M Shohat, +3

Archives of Disease in Childhood

Ocular DiseaseOphthalmologyPlus DiseaseAvascular Retina CryotherapyPediatrics +5

Genetic influence on the prevalence of Torus palatinus

Meir Gorsky, A. Bukai, M Shohat

American Journal of Medical Genetics

Torus PalatinusGeneticsSegregation AnalysisGenetic DiversityMolecular Ecology +14

Cut‐off value of nuchal translucency as indication for chromosomal microarray analysis

Idit Maya, Shiri Yacobson, Sarit Kahana, +7

Ultrasound in Obstetrics and Gynecology

Childhood asthma and growth outcome.

M Shohat, Tamy Shohat, Ron Kedem, +2

Archives of Disease in Childhood

AsthmaObesityChildhood ObesityMild AsthmaBody Composition +11

Autosomal recessive ichthyosis with hypotrichosis syndrome: further delineation of the phenotype

Limor Avrahami, Saskia M. Maas, Metsada Pasmanik‐Chor, +6

Clinical Genetics

St14 GeneAutosomal Recessive IchthyosisDevelopmental BiologyMendelian DisorderSerine Protease Matriptase +11

Audiovestibular Findings in Patients With Deafness Caused by a Mitochondrial Susceptibility Mutation and Precipitated by an Inherited Nuclear Mutation or Aminoglycosides

Itzhak Braverman, Lutfi Jaber, H. Levi, +5

Archives of Otolaryngology - Head and Neck Surgery

Consanguinity and common adult diseases in Israeli Arab communities

Lutfi Jaber, Tamar Shohat, Jerome I. Rotter, +1

American Journal of Medical Genetics