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Clinical and genetic heterogeneity of congenital adrenal hypoplasia due to NR0B1 gene mutations

Clinical endocrinology (Oxford), 2010-04, Vol.72 (4), p.448-454

2010

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Prevalence of the I1307K APC gene variant in Israeli Jews of differing ethnic origin and risk for colorectal cancer

Gastroenterology (New York, N.Y. 1943), 1999, Vol.116 (1), p.54-57

1999

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A compound heterozygous missense mutation and a large deletion in the KCTD7 gene presenting as an opsoclonus-myoclonus ataxia-like syndrome

Journal of neurology, 2012-12, Vol.259 (12), p.2590-2598

2012

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Large-scale population screening for spinal muscular atrophy: Clinical implications

Genetics in medicine, 2011-02, Vol.13 (2), p.110-114

2011

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Ethnic effect on FMR1 carrier rate and AGG repeat interruptions among Ashkenazi women

Genetics in medicine, 2014-12, Vol.16 (12), p.940-944

2014

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The Predictive Value of TP53 FISH Analysis for Treatment Response and Survival in Cytogenetic Subgroups of AML Patients

Blood, 2009-11, Vol.114 (22), p.2617-2617

2009

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Predictive value of TP53 fluorescence in situ hybridization in cytogenetic subgroups of acute myeloid leukemia

Leukemia & lymphoma, 2011-04, Vol.52 (4), p.642-647

2011

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Rett Syndrome: Clinical Manifestations in Males With MECP2 Mutations

Journal of child neurology, 2002-01, Vol.17 (1), p.20-24

2002

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Cytogenetic analysis of 101 skull base tumors

Head & neck, 2008-05, Vol.30 (5), p.567-581

2008

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Molecular analysis of the APC gene in 71 Israeli families: 17 novel mutations

Human mutation, 2002-06, Vol.19 (6), p.664-664

2002

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Clinical and screening implications of the I1307K adenomatous polyposis coli gene variant in Israeli Ashkenazi jews with familial colorectal neoplasia: evidence for a founder effect

Cancer, 2002-05, Vol.94 (10), p.2561-2568

2002

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Cytogenetic analysis of sinonasal carcinomas

Otolaryngology-head and neck surgery, 2006-04, Vol.134 (4), p.654-660

2006

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MECP2 Mutations in Israel: Implications for molecular analysis, genetic counseling, and prenatal diagnosis in Rett syndrome

Human mutation, 2002-10, Vol.20 (4), p.323-324

2002

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Prevalence of glucocerebrosidase mutations in the Israeli Ashkenazi Jewish population

Human mutation, 1998, Vol.12 (4), p.240-244

1998

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Multiplex Nested PCR for Preimplantation Genetic Diagnosis of Spinal Muscular Atrophy

Fetal diagnosis and therapy, 2004-03, Vol.19 (2), p.199-206

2004

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Clinical and screening implications of the I1307K adenomatous polyposis coli gene variant in Israeli Ashkenazi Jews with familial colorectal neoplasia

Cancer, 2002-05, Vol.94 (10), p.2561-2568

2002

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Novel mutations in theemerin gene in Israeli families

Human mutation, 2001-06, Vol.17 (6), p.522-522

2001

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Novel mutations in the emerin gene in Israeli families

Human mutation, 2001-06, Vol.17 (6), p.522-522

2001

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Familial adenomatous polyposis at the Tel Aviv Medical Center: demographic and clinical features

Familial cancer, 2001, Vol.1 (2), p.75-82

2001

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Fetal muscle biopsy as a diagnostic tool in Duchenne muscular dystrophy

Prenatal diagnosis, 1999-10, Vol.19 (10), p.921-926

1999

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Mutations of the adenomatous polyposis coli and p53 genes in a child with Turcot's syndrome

Cancer letters, 1998-10, Vol.132 (1), p.119-125

1998

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Mutations of the adenomatous polyposis coli and p53 genes in a child with Turcot's syndrome1This work is in partial fulfillment of the requirements for the Ph.D. degree of D. Barel, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.1

Cancer letters, 1998-10, Vol.132 (1-2), p.119-125

1998

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Genetic counseling and molecular analysis of muscular dystrophy families in Israel

Neuromuscular disorders : NMD, 1997-09, Vol.7 (6-7), p.434

1997

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Detection of Duchenne muscular dystrophy gene products in amniotic fluid and chorionic villus sampling cells — Possible application for prenatal diagnosis

Neuromuscular disorders : NMD, 1996-03, Vol.6 (2), p.S12-S12

1996

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Detection of Duchenne muscular dystrophy gene products in amniotic fluid and chorionic villus sampling cells

FEBS letters, 1993-12, Vol.335 (2), p.223-230

1993

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Clinical and genetic heterogeneity of congenital adrenal hypoplasia due to NR0B1 gene mutations

Prevalence of the I1307K APC gene variant in Israeli Jews of differing ethnic origin and risk for colorectal cancer

A compound heterozygous missense mutation and a large deletion in the KCTD7 gene presenting as an opsoclonus-myoclonus ataxia-like syndrome

Large-scale population screening for spinal muscular atrophy: Clinical implications

Ethnic effect on FMR1 carrier rate and AGG repeat interruptions among Ashkenazi women

The Predictive Value of TP53 FISH Analysis for Treatment Response and Survival in Cytogenetic Subgroups of AML Patients

Predictive value of TP53 fluorescence in situ hybridization in cytogenetic subgroups of acute myeloid leukemia

Rett Syndrome: Clinical Manifestations in Males With MECP2 Mutations

Cytogenetic analysis of 101 skull base tumors

Molecular analysis of the APC gene in 71 Israeli families: 17 novel mutations

Clinical and screening implications of the I1307K adenomatous polyposis coli gene variant in Israeli Ashkenazi jews with familial colorectal neoplasia: evidence for a founder effect

Cytogenetic analysis of sinonasal carcinomas

MECP2 Mutations in Israel: Implications for molecular analysis, genetic counseling, and prenatal diagnosis in Rett syndrome

Prevalence of glucocerebrosidase mutations in the Israeli Ashkenazi Jewish population

Multiplex Nested PCR for Preimplantation Genetic Diagnosis of Spinal Muscular Atrophy

Clinical and screening implications of the I1307K adenomatous polyposis coli gene variant in Israeli Ashkenazi Jews with familial colorectal neoplasia

Novel mutations in theemerin gene in Israeli families

Novel mutations in the emerin gene in Israeli families

Familial adenomatous polyposis at the Tel Aviv Medical Center: demographic and clinical features

Fetal muscle biopsy as a diagnostic tool in Duchenne muscular dystrophy

Mutations of the adenomatous polyposis coli and p53 genes in a child with Turcot's syndrome

Mutations of the adenomatous polyposis coli and p53 genes in a child with Turcot's syndrome1This work is in partial fulfillment of the requirements for the Ph.D. degree of D. Barel, Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.1

Genetic counseling and molecular analysis of muscular dystrophy families in Israel

Detection of Duchenne muscular dystrophy gene products in amniotic fluid and chorionic villus sampling cells — Possible application for prenatal diagnosis

Detection of Duchenne muscular dystrophy gene products in amniotic fluid and chorionic villus sampling cells

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