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Chromosomal microarray analysis in fetuses with aberrant right subclavian artery

Ultrasound in obstetrics & gynecology, 2017-03, Vol.49 (3), p.337-341

2017

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Recognition of the Cornelia de Lange syndrome phenotype with facial dysmorphology novel analysis

Clinical genetics, 2016-05, Vol.89 (5), p.557-563

2016

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Bi‐allelic IARS mutations in a child with intra‐uterine growth retardation, neonatal cholestasis, and mild developmental delay

Clinical genetics, 2017-06, Vol.91 (6), p.913-917

2017

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Homozygous deletion of RAG1, RAG2 and 5′ region TRAF6 causes severe immune suppression and atypical osteopetrosis

Clinical genetics, 2017-06, Vol.91 (6), p.902-907

2017

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Genetics of autosomal recessive non-syndromic mental retardation: recent advances

Clinical genetics, 2007-09, Vol.72 (3), p.167-174

Basel-Vanagaite, L

2007

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A novel splice-site mutation in the AAGAB gene segregates with hereditary punctate palmoplantar keratoderma and congenital dysplasia of the hip in a large family

Clinical and experimental dermatology, 2014-03, Vol.39 (2), p.182-186

2014

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A novel heterozygous IGF-1 receptor mutation associated with hypoglycemia

Endocrine Connections, 2017-08, Vol.6 (6), p.395-403

2017

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

Clinical genetics, 2008-07, Vol.74 (1), p.47-53

2008

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High frequency of autosomal-recessive DFNB59 hearing loss in an isolated Arab population in Israel

Clinical genetics, 2012-09, Vol.82 (3), p.271-276

2012

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Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN

Journal of medical genetics, 2011-06, Vol.48 (6), p.383-389

2011

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Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival

Human molecular genetics, 2009-06, Vol.18 (12), p.2149-2165

2009

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OP08.01: Cytogenetic analysis in fetuses with late onset abnormal sonographic findings

Ultrasound in obstetrics & gynecology, 2017-09, Vol.50 (S1), p.71-71

2017

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Case series: 2q33.1 microdeletion syndrome—further delineation of the phenotype

Journal of medical genetics, 2011-05, Vol.48 (5), p.290-298

2011

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The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation

Journal of medical genetics, 2006-03, Vol.43 (3), p.203-210

2006

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Expanding the phenotypic spectrum of L1CAM-associated disease

Clinical genetics, 2006-05, Vol.69 (5), p.414-419

2006

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CDH3-Related Syndromes: Report on a New Mutation and Overview of the Genotype-Phenotype Correlations

Molecular syndromology, 2010-01, Vol.1 (5), p.223-230

2010

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Infantile bilateral striatal necrosis maps to chromosome 19q

Neurology, 2004-01, Vol.62 (1), p.87

2004

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Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type

Neurology, 2008-11, Vol.71 (20), p.1602

2008

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A novel mutation in the GAN gene causes an intermediate form of giant axonal neuropathy in an Arab–Israeli family

European journal of paediatric neurology, 2013-05, Vol.17 (3), p.259-264

2013

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Dominant Mutations in GRHL3 Cause Van der Woude Syndrome and Disrupt Oral Periderm Development

American journal of human genetics, 2014-01, Vol.94 (1), p.23-32

2014

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Rapid Development of Post-radiotherapy Sarcoma and Breast Cancer in a Patient with a Novel Germline ‘ De-Novo ’ TP53 Mutation

Clinical oncology (Royal College of Radiologists (Great Britain)), 2007-09, Vol.19 (7), p.490-493

2007

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G Protein-Coupled Receptor-Dependent Development of Human Frontal Cortex

Science (American Association for the Advancement of Science), 2004-03, Vol.303 (5666), p.2033-2036

2004

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Intra-familial Variation in Clinical Phenotype of CARD14-related Psoriasis

Acta dermato-venereologica, 2016-11, Vol.96 (7), p.885-887

2016

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Mapping of a new locus for autosomal recessive non-syndromic mental retardation in the chromosomal region 19p13.12-p13.2: further genetic heterogeneity

Journal of medical genetics, 2003-10, Vol.40 (10), p.729-732

2003

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EM.P.2.04 Unraveling the genetic complexity of alpha-dystroglycanopathies: Ethnically diverse pathogenic mutations

Neuromuscular disorders : NMD, 2009-09, Vol.19 (8), p.552-553

2009

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Chromosomal microarray analysis in fetuses with aberrant right subclavian artery

Recognition of the Cornelia de Lange syndrome phenotype with facial dysmorphology novel analysis

Bi‐allelic IARS mutations in a child with intra‐uterine growth retardation, neonatal cholestasis, and mild developmental delay

Homozygous deletion of RAG1, RAG2 and 5′ region TRAF6 causes severe immune suppression and atypical osteopetrosis

Genetics of autosomal recessive non-syndromic mental retardation: recent advances

A novel splice-site mutation in the AAGAB gene segregates with hereditary punctate palmoplantar keratoderma and congenital dysplasia of the hip in a large family

A novel heterozygous IGF-1 receptor mutation associated with hypoglycemia

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

High frequency of autosomal-recessive DFNB59 hearing loss in an isolated Arab population in Israel

Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN

Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival

OP08.01: Cytogenetic analysis in fetuses with late onset abnormal sonographic findings

Case series: 2q33.1 microdeletion syndrome—further delineation of the phenotype

The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation

Expanding the phenotypic spectrum of L1CAM-associated disease

CDH3-Related Syndromes: Report on a New Mutation and Overview of the Genotype-Phenotype Correlations

Infantile bilateral striatal necrosis maps to chromosome 19q

Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type

A novel mutation in the GAN gene causes an intermediate form of giant axonal neuropathy in an Arab–Israeli family

Dominant Mutations in GRHL3 Cause Van der Woude Syndrome and Disrupt Oral Periderm Development

Rapid Development of Post-radiotherapy Sarcoma and Breast Cancer in a Patient with a Novel Germline ‘ De-Novo ’ TP53 Mutation

G Protein-Coupled Receptor-Dependent Development of Human Frontal Cortex

Intra-familial Variation in Clinical Phenotype of CARD14-related Psoriasis

Mapping of a new locus for autosomal recessive non-syndromic mental retardation in the chromosomal region 19p13.12-p13.2: further genetic heterogeneity

EM.P.2.04 Unraveling the genetic complexity of alpha-dystroglycanopathies: Ethnically diverse pathogenic mutations

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