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Another pedigree with familial acute myeloid leukemia and germline CEBPA mutation

Leukemia, 2009-04, Vol.23 (4), p.804-806

2009

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Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency

Nature genetics, 1998-09, Vol.20 (1), p.51-53

1998

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Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution

Journal of neurology, neurosurgery and psychiatry, 2015-12, Vol.86 (12), p.1337-1346

2015

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Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients

Human genetics, 2000-02, Vol.106 (2), p.194-205

2000

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Mitochondrial very-long-chain acyl-coenzyme A dehydrogenase deficiency: clinical characteristics and diagnostic considerations in 30 patients

Clinica chimica acta, 1998-01, Vol.269 (1), p.43-62

1998

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Cloning and Characterization of Human Very-Long-Chain Acyl-CoA Dehydrogenase cDNA, Chromosomal Assignment of the Gene and Identification in Four Patients of Nine Different Mutations Within the VLCAD Gene

Human molecular genetics, 1996-04, Vol.5 (4), p.461-472

1996

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Human Molybdopterin Synthase Gene: Genomic Structure and Mutations in Molybdenum Cofactor Deficiency Type B

American journal of human genetics, 1999-03, Vol.64 (3), p.706-711

1999

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Molecular analysis of patients with β-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII

American journal of human genetics, 1996-03, Vol.58 (3), p.457-471

1996

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The molecular basis of Canavan (aspartoacylase deficiency) disease in European non-Jewish patients

American journal of human genetics, 1995-09, Vol.57 (3), p.572-580

1995

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Very long chain acyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid oxidation in fibroblasts

Biochimica et biophysica acta, 1993-01, Vol.1180 (3), p.327-329

1993

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Pathogenicity of missense mutations in SURF1 deficiency inducing the Leigh syndrome. Importance in diagnosis

Mitochondrion, 2004-06, Vol.4 (1), p.41-47

2004

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Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: First adult-onset patients of a childhood disease

Annals of neurology, 2001-08, Vol.50 (2), p.269-272

2001

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Biochemical and genetic studies of four patients with pyruvate dehydrogenase E1α deficiency

Human genetics, 1997-06, Vol.99 (6), p.785-792

1997

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Excision repair defect in Rothmund Thomson syndrome

Acta dermato-venereologica, 1999-03, Vol.79 (2), p.150-152

1999

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Elastin Gene Deletions in Williams Syndrome Patients Result in Altered Deposition of Elastic Fibers in Skin and a Subclinical Dermal Phenotype

Pediatric dermatology, 2000-01, Vol.17 (1), p.12-20

2000

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Four novel mutations at the cystathionine β‐synthase locus causing homocystinuria

Journal of inherited metabolic disease, 1998-12, Vol.21 (8), p.823-828

1998

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Localization of a Gene for Molybdenum Cofactor Deficiency, on the Short Arm of Chromosome 6, by Homozygosity Mapping

American journal of human genetics, 1998-07, Vol.63 (1), p.148-154

1998

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In vitro toxic effects of certain antibiotics on the fibroblasts of two children with I-cell disease

Cell biology and toxicology, 1998-10, Vol.14 (5), p.333-343

1998

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Prenatal diagnosis and carrier detection for molybdenum cofactor deficiency type A in Northern Israel using polymorphic DNA markers

Prenatal diagnosis, 2000-01, Vol.20 (1), p.7-11

2000

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A study of new NEK8 mutations in patients with severe renal cystic hypodysplasia and ciliopathy-associated defects

Cilia (London), 2015-07, Vol.4 (S1), p.P54-P54, Article P54

2015

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Interleukin 4 in inhibits in vitro proliferation of leukemic and normal human B cell precursors

The Journal of clinical investigation, 1992-11, Vol.90 (5), p.1697-1706

1992

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Submicroscopic Deletion in Patients with Williams-Beuren Syndrome Influences Expression Levels of the Nonhemizygous Flanking Genes

American journal of human genetics, 2006-08, Vol.79 (2), p.332-341

2006

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Bisphenol A differentially affects male reproductive function biomarkers in a reference population and agro pesticides users from Djutitsa, Cameroon

Toxicology and industrial health, 2019-04, Vol.35 (4), p.324-335

2019

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Fifteen new mutations (-195C>T, L-12X, 298-2A>G, T117N, A159T, R229S, 997+2T>A, E274X, A331T, H364R, D389G, 1256delC, R433H, N461I, C472S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with hypophosphatasia

Human mutation, 2000-03, Vol.15 (3), p.293-293

2000

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Unreliable verification of prenatal diagnosis of Canavan disease: aspartoacylase activity in deficient and normal fetal skin fibroblasts

Journal of inherited metabolic disease, 1994-11, Vol.17 (6), p.748-748

1994

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Another pedigree with familial acute myeloid leukemia and germline CEBPA mutation

Mutations in a polycistronic nuclear gene associated with molybdenum cofactor deficiency

Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution

Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patients

Mitochondrial very-long-chain acyl-coenzyme A dehydrogenase deficiency: clinical characteristics and diagnostic considerations in 30 patients

Cloning and Characterization of Human Very-Long-Chain Acyl-CoA Dehydrogenase cDNA, Chromosomal Assignment of the Gene and Identification in Four Patients of Nine Different Mutations Within the VLCAD Gene

Human Molybdopterin Synthase Gene: Genomic Structure and Mutations in Molybdenum Cofactor Deficiency Type B

Molecular analysis of patients with β-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII

The molecular basis of Canavan (aspartoacylase deficiency) disease in European non-Jewish patients

Very long chain acyl-CoA dehydrogenase deficiency: identification of a new inborn error of mitochondrial fatty acid oxidation in fibroblasts

Pathogenicity of missense mutations in SURF1 deficiency inducing the Leigh syndrome. Importance in diagnosis

Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: First adult-onset patients of a childhood disease

Biochemical and genetic studies of four patients with pyruvate dehydrogenase E1α deficiency

Excision repair defect in Rothmund Thomson syndrome

Elastin Gene Deletions in Williams Syndrome Patients Result in Altered Deposition of Elastic Fibers in Skin and a Subclinical Dermal Phenotype

Four novel mutations at the cystathionine β‐synthase locus causing homocystinuria

Localization of a Gene for Molybdenum Cofactor Deficiency, on the Short Arm of Chromosome 6, by Homozygosity Mapping

In vitro toxic effects of certain antibiotics on the fibroblasts of two children with I-cell disease

Prenatal diagnosis and carrier detection for molybdenum cofactor deficiency type A in Northern Israel using polymorphic DNA markers

A study of new NEK8 mutations in patients with severe renal cystic hypodysplasia and ciliopathy-associated defects

Interleukin 4 in inhibits in vitro proliferation of leukemic and normal human B cell precursors

Submicroscopic Deletion in Patients with Williams-Beuren Syndrome Influences Expression Levels of the Nonhemizygous Flanking Genes

Bisphenol A differentially affects male reproductive function biomarkers in a reference population and agro pesticides users from Djutitsa, Cameroon

Fifteen new mutations (-195C>T, L-12X, 298-2A>G, T117N, A159T, R229S, 997+2T>A, E274X, A331T, H364R, D389G, 1256delC, R433H, N461I, C472S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with hypophosphatasia

Unreliable verification of prenatal diagnosis of Canavan disease: aspartoacylase activity in deficient and normal fetal skin fibroblasts

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