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Gain-of-function mutation of microRNA-140 in human skeletal dysplasia

Nature medicine, 2019-04, Vol.25 (4), p.583-590

2019

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Morbid Obesity Resulting from Inactivation of the Ciliary Protein CEP19 in Humans and Mice

American journal of human genetics, 2013-12, Vol.93 (6), p.1061-1071

2013

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Mutations in the Heparan-Sulfate Proteoglycan Glypican 6 (GPC6) Impair Endochondral Ossification and Cause Recessive Omodysplasia

American journal of human genetics, 2009-06, Vol.84 (6), p.760-770

2009

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Heterozygous mutations in ANKH , the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia

Nature genetics, 2001-05, Vol.28 (1), p.37-41

2001

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SERKAL Syndrome: An Autosomal-Recessive Disorder Caused by a Loss-of-Function Mutation in WNT4

American journal of human genetics, 2008-01, Vol.82 (1), p.39-47

2008

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A system for exact and approximate genetic linkage analysis of SNP data in large pedigrees

Bioinformatics, 2013-01, Vol.29 (2), p.197-205

2013

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Novel SMARCAL1 Bi-allelic Mutations Associated with a Chromosomal Breakage Phenotype in a Severe SIOD Patient

Journal of clinical immunology, 2014, Vol.34 (1), p.76-83

2014

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A distinctive autosomal recessive syndrome of severe disproportionate short stature with short long bones, brachydactyly, and hypotrichosis in two consanguineous Arab families

European journal of medical genetics, 2012-04, Vol.55 (4), p.256-264

2012

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Myotonia congenita in a large consanguineous Arab family: Insight into the clinical spectrum of carriers and double heterozygotes of a novel mutation in the chloride channel CLCN1 gene

Muscle & nerve, 2010-04, Vol.41 (4), p.464-469

2010

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Asymmetric Crying Facies

Neoreviews (Elk Grove Village, Ill.), 2009-10, Vol.10 (10), p.e502-e509

2009

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Dynamic modification strategy of the Israeli prenatal carrier screening protocol: inclusion of the oriental Jewish group to the cystic fibrosis panel-update

Genetics in medicine, 2009-05, Vol.11 (5), p.372-372

2009

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Dynamic modification strategy of the Israeli carrier screening protocol: inclusion of the Oriental Jewish Group to the cystic fibrosis panel

Genetics in medicine, 2009-02, Vol.11 (2), p.101-103

2009

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Attitudes of Israeli Muslims at Risk of Genetic Disorders towards Pregnancy Termination

Community genetics, 2005-01, Vol.8 (2), p.88-93

2005

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A system for exact and approximate genetic linkage analysis of SNP data in large pedigrees

Bioinformatics (Oxford, England), 2013-03, Vol.29 (5), p.669-669

2013

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Case 2: Developmental delay, especially language, in a toddler

Paediatrics & child health, 2008-11, Vol.13 (9), p.775-778

2008

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60 years of medical genetics in Israel

הרפואה, 2010-02, Vol.149 (2), p.91

2010

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SERKAL Syndrome: An Autosomal-Recess ive Disorder Caused by a Loss-of-Function Mutation in WNT4

American journal of human genetics, 2008-01, Vol.82 (1), p.39

2008

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Detection of X chromosome aneuploidy using Southern blot analysis during routine population-based screening for fragile X syndrome

Genetic testing, 2003-12, Vol.7 (4), p.345-346

2003

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Case 2: Developmental delay, especially language, in a toddler

Paediatrics & child health, 2008, Vol.13 (9), p.775-778

2008

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Osteosclerosis, hypoplastic nose, and proptosis (Raine syndrome): Further delineation

American journal of medical genetics, 1999-09, Vol.86 (3), p.274-277

1999

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Gain-of-function mutation of microRNA-140 in human skeletal dysplasia

Morbid Obesity Resulting from Inactivation of the Ciliary Protein CEP19 in Humans and Mice

Mutations in the Heparan-Sulfate Proteoglycan Glypican 6 (GPC6) Impair Endochondral Ossification and Cause Recessive Omodysplasia

Heterozygous mutations in ANKH , the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia

SERKAL Syndrome: An Autosomal-Recessive Disorder Caused by a Loss-of-Function Mutation in WNT4

A system for exact and approximate genetic linkage analysis of SNP data in large pedigrees

Novel SMARCAL1 Bi-allelic Mutations Associated with a Chromosomal Breakage Phenotype in a Severe SIOD Patient

A distinctive autosomal recessive syndrome of severe disproportionate short stature with short long bones, brachydactyly, and hypotrichosis in two consanguineous Arab families

Myotonia congenita in a large consanguineous Arab family: Insight into the clinical spectrum of carriers and double heterozygotes of a novel mutation in the chloride channel CLCN1 gene

Asymmetric Crying Facies

Dynamic modification strategy of the Israeli prenatal carrier screening protocol: inclusion of the oriental Jewish group to the cystic fibrosis panel-update

Dynamic modification strategy of the Israeli carrier screening protocol: inclusion of the Oriental Jewish Group to the cystic fibrosis panel

Attitudes of Israeli Muslims at Risk of Genetic Disorders towards Pregnancy Termination

A system for exact and approximate genetic linkage analysis of SNP data in large pedigrees

Case 2: Developmental delay, especially language, in a toddler

60 years of medical genetics in Israel

SERKAL Syndrome: An Autosomal-Recess ive Disorder Caused by a Loss-of-Function Mutation in WNT4

Detection of X chromosome aneuploidy using Southern blot analysis during routine population-based screening for fragile X syndrome

Case 2: Developmental delay, especially language, in a toddler

Osteosclerosis, hypoplastic nose, and proptosis (Raine syndrome): Further delineation

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