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Familial adenomatous polyposis

Orphanet journal of rare diseases, 2009-10, Vol.4 (1), p.22-22, Article 22

2009

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Minichromosome maintenance complex component 8 (MCM8) gene mutations result in primary gonadal failure

Journal of medical genetics, 2015-06, Vol.52 (6), p.391-399

2015

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A case of Ververi‐Brady syndrome due to QRICH1 loss of function and the literature review

American journal of medical genetics. Part A, 2021-06, Vol.185 (6), p.1913-1917

2021

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Familial Central Hypothyroidism Caused by a Novel IGSF1 Gene Mutation

Thyroid (New York, N.Y.), 2016-12, Vol.26 (12), p.1693

2016

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Novel activating mutations lacking cysteine in type I cytokine receptors in acute lymphoblastic leukemia

Blood, 2014-07, Vol.124 (1), p.106-110

2014

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Cell lineage analysis of acute leukemia relapse uncovers the role of replication-rate heterogeneity and microsatellite instability

Blood, 2012-07, Vol.120 (3), p.603-612

2012

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Extreme Short Stature and Severe Neurological Impairment in a 17-Year-Old Male With Untreated Combined Pituitary Hormone Deficiency Due to POU1F1 Mutation

Frontiers in endocrinology (Lausanne), 2019-06, Vol.10, p.381

2019

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A Mutation in SNAP29, Coding for a SNARE Protein Involved in Intracellular Trafficking, Causes a Novel Neurocutaneous Syndrome Characterized by Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma

American journal of human genetics, 2005-08, Vol.77 (2), p.242-251

2005

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A Deleterious Mutation in SAMD9 Causes Normophosphatemic Familial Tumoral Calcinosis

American journal of human genetics, 2006-10, Vol.79 (4), p.759-764

2006

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Frequency of canine nt230(del4) MDR1 mutation in prone pure breeds, their crosses and mongrels in Israel - insights from a worldwide comparative perspective

BMC veterinary research, 2017-11, Vol.13 (1), p.333-333, Article 333

2017

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Naegeli-Franceschetti-Jadassohn Syndrome and Dermatopathia Pigmentosa Reticularis: Two Allelic Ectodermal Dysplasias Caused by Dominant Mutations in KRT14

American journal of human genetics, 2006-10, Vol.79 (4), p.724-730

2006

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Genotype-phenotype correlations analysis of mutations in the phenylalanine hydroxylase ( ) gene

Journal of human genetics, 2008-05, Vol.53 (5), p.407-418

2008

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Central Role of α7 Nicotinic Receptor in Differentiation of the Stratified Squamous Epithelium

The Journal of cell biology, 2002-10, Vol.159 (2), p.325-336

2002

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Mitochondrial pro-apoptotic ARTS protein is lost in the majority of acute lymphoblastic leukemia patients

Oncogene, 2004-07, Vol.23 (32), p.5468-5475

2004

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DHPLC screening for mutations in progressive familial intrahepatic cholestasis patients

Journal of human genetics, 2010-05, Vol.55 (5), p.308-313

2010

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Synergistic control of keratinocyte adhesion through muscarinic and nicotinic acetylcholine receptor subtypes

Experimental cell research, 2004-04, Vol.294 (2), p.534-549

2004

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Autosomal-Recessive Hypophosphatemic Rickets Is Associated with an Inactivation Mutation in the ENPP1 Gene

American journal of human genetics, 2010-02, Vol.86 (2), p.273-278

2010

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A novel BRCA-1 mutation in Arab kindred from east Jerusalem with breast and ovarian cancer

BMC cancer, 2007, Vol.7 (1), p.14-14, Article 14

2007

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1647-P: Rare Disruptive Loss of Function Mutations in the Cluster of Differentiation 36 (CD36) Gene Overwhelmingly Cause a Metabolic Syndrome in Multiple Members of an Inbred Pedigree from One Village in Northern Israel

Diabetes (New York, N.Y.), 2020-06, Vol.69 (Supplement_1)

2020

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Gain-of-function mutations in interleukin-7 receptor-α (IL7R) in childhood acute lymphoblastic leukemias

The Journal of experimental medicine, 2011-05, Vol.208 (5), p.901-908

2011

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RNASEL Mutation Screening and Association Study in Ashkenazi and Non-Ashkenazi Prostate Cancer Patients

Cancer epidemiology, biomarkers & prevention, 2006-03, Vol.15 (3), p.474-479

2006

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The significance of human spermatozoa vacuoles can be elucidated by a novel procedure of array comparative genomic hybridization

Human reproduction (Oxford), 2018-04, Vol.33 (4), p.563-571

2018

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POLD1 and POLE Gene Mutations in Jewish Cohorts of Early-Onset Colorectal Cancer and of Multiple Colorectal Adenomas

Diseases of the colon & rectum, 2018-09, Vol.61 (9), p.1073-1079

2018

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Functional role of α7 nicotinic receptor in physiological control of cutaneous homeostasis

Life sciences (1973), 2003-03, Vol.72 (18), p.2063-2067

2003

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Familial adenomatous polyposis

Minichromosome maintenance complex component 8 (MCM8) gene mutations result in primary gonadal failure

A case of Ververi‐Brady syndrome due to QRICH1 loss of function and the literature review

Familial Central Hypothyroidism Caused by a Novel IGSF1 Gene Mutation

Novel activating mutations lacking cysteine in type I cytokine receptors in acute lymphoblastic leukemia

Cell lineage analysis of acute leukemia relapse uncovers the role of replication-rate heterogeneity and microsatellite instability

Extreme Short Stature and Severe Neurological Impairment in a 17-Year-Old Male With Untreated Combined Pituitary Hormone Deficiency Due to POU1F1 Mutation

A Mutation in SNAP29, Coding for a SNARE Protein Involved in Intracellular Trafficking, Causes a Novel Neurocutaneous Syndrome Characterized by Cerebral Dysgenesis, Neuropathy, Ichthyosis, and Palmoplantar Keratoderma

A Deleterious Mutation in SAMD9 Causes Normophosphatemic Familial Tumoral Calcinosis

Frequency of canine nt230(del4) MDR1 mutation in prone pure breeds, their crosses and mongrels in Israel - insights from a worldwide comparative perspective

Naegeli-Franceschetti-Jadassohn Syndrome and Dermatopathia Pigmentosa Reticularis: Two Allelic Ectodermal Dysplasias Caused by Dominant Mutations in KRT14

Genotype-phenotype correlations analysis of mutations in the phenylalanine hydroxylase ( ) gene

Central Role of α7 Nicotinic Receptor in Differentiation of the Stratified Squamous Epithelium

Mitochondrial pro-apoptotic ARTS protein is lost in the majority of acute lymphoblastic leukemia patients

DHPLC screening for mutations in progressive familial intrahepatic cholestasis patients

Synergistic control of keratinocyte adhesion through muscarinic and nicotinic acetylcholine receptor subtypes

Autosomal-Recessive Hypophosphatemic Rickets Is Associated with an Inactivation Mutation in the ENPP1 Gene

A novel BRCA-1 mutation in Arab kindred from east Jerusalem with breast and ovarian cancer

1647-P: Rare Disruptive Loss of Function Mutations in the Cluster of Differentiation 36 (CD36) Gene Overwhelmingly Cause a Metabolic Syndrome in Multiple Members of an Inbred Pedigree from One Village in Northern Israel

Gain-of-function mutations in interleukin-7 receptor-α (IL7R) in childhood acute lymphoblastic leukemias

RNASEL Mutation Screening and Association Study in Ashkenazi and Non-Ashkenazi Prostate Cancer Patients

The significance of human spermatozoa vacuoles can be elucidated by a novel procedure of array comparative genomic hybridization

Down syndrome acute lymphoblastic leukemia, a highly heterogeneous disease in which aberrant expression of CRLF2 is associated with mutated JAK2: a report from the International BFM Study Group

POLD1 and POLE Gene Mutations in Jewish Cohorts of Early-Onset Colorectal Cancer and of Multiple Colorectal Adenomas

Functional role of α7 nicotinic receptor in physiological control of cutaneous homeostasis

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