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Clinical presentation and outcome in a series of 88 patients with the cblC defect

Journal of inherited metabolic disease, 2014-09, Vol.37 (5), p.831-840

2014

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Subependymal mass lesions and peripheral polyneuropathy in adult-onset glutaric aciduria type I

Neurology, 2013-08, Vol.81 (9), p.849-850

2013

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Is the zona pellucida thickness of human embryos influenced by women's age and hormonal levels?

Fertility and sterility, 2012-07, Vol.98 (1), p.77-83

2012

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A Nonsense Mutation in the Human Homolog of Drosophila rogdi Causes Kohlschutter–Tonz Syndrome

American journal of human genetics, 2012-04, Vol.90 (4), p.708-714

2012

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TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome

Journal of medical genetics, 2011-03, Vol.48 (3), p.177-182

2011

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Hyperpigmentation and hypotonia in a 3-month-old infant (Case Presentation)

Acta Paediatrica, 2011-03, Vol.100 (3), p.321-321

2011

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A case of H syndrome showing immunophenotye similarities to Rosai-Dorfman disease

The American journal of dermatopathology, 2011-02, Vol.33 (1), p.47-51

2011

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Infantile Cerebral and Cerebellar Atrophy Is Associated with a Mutation in the MED17 Subunit of the Transcription Preinitiation Mediator Complex

American journal of human genetics, 2010-11, Vol.87 (5), p.667-670

2010

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'Sick', irritable infant with fever, vomiting, bloody stool and abdominal distention (Case Presentation)

Acta Paediatrica, 2010-09, Vol.99 (9), p.1285-1285

2010

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Adult-onset ornithine transcarbamylase (OTC) deficiency unmasked by the Atkins’ diet

Journal of hepatology, 2010-02, Vol.52 (2), p.292-295

2010

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Early Treatment With Alglucosidase Alfa Prolongs Long-Term Survival of Infants With Pompe Disease

Pediatric research, 2009-09, Vol.66 (3), p.329-335

2009

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Mutated NDUFS6 is the cause of fatal neonatal lactic acidemia in Caucasus Jews

European journal of human genetics : EJHG, 2009-09, Vol.17 (9), p.1200-1203

2009

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SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis

Annals of neurology, 2009-09, Vol.66 (3), p.419-424

2009

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Laser zona thinning in women aged ≤37 years: a randomized study

Fertility and sterility, 2009-04, Vol.91 (4), p.1479-1482

2009

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The significance of isolated elevation of serum aminotransferases in infants and young children

Archives of disease in childhood, 2007-12, Vol.92 (12), p.1109-1112

2007

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Clinical and molecular genetic features of ARC syndrome

Human genetics, 2006-10, Vol.120 (3), p.396-409

2006

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A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease

The Journal of pediatrics, 2006-05, Vol.148 (5), p.671-676.e2

2006

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DNA-based prenatal diagnosis for severe and variant forms of multiple acyl-CoA dehydrogenation deficiency

Prenatal diagnosis, 2005-01, Vol.25 (1), p.60-64

2005

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Mutations in VPS33B , encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome

Nature genetics, 2004-04, Vol.36 (4), p.400-404

2004

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Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder

Pediatric research, 2004-03, Vol.55 (3), p.431-436

2004

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Nonsyndromic Paucity of Interlobular Bile Ducts: Report of 10 Patients

Journal of pediatric gastroenterology and nutrition, 2003-11, Vol.37 (5), p.546-549

2003

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Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia

Nature genetics, 2003-03, Vol.33 (3), p.426-429

2003

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A novel mutation in the deoxyguanosine kinase gene causing depletion of mitochondrial DNA

Annals of neurology, 2002-08, Vol.52 (2), p.237-239

2002

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Depletion of the other genome-mitochondrial DNA depletion syndromes in humans

Journal of molecular medicine (Berlin, Germany), 2002-07, Vol.80 (7), p.389-396

2002

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C7 complement deficiency in an Israeli Arab village

American journal of medical genetics, 2002-06, Vol.110 (1), p.25-29

2002

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Clinical presentation and outcome in a series of 88 patients with the cblC defect

Subependymal mass lesions and peripheral polyneuropathy in adult-onset glutaric aciduria type I

Is the zona pellucida thickness of human embryos influenced by women's age and hormonal levels?

A Nonsense Mutation in the Human Homolog of Drosophila rogdi Causes Kohlschutter–Tonz Syndrome

TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome

Hyperpigmentation and hypotonia in a 3-month-old infant (Case Presentation)

A case of H syndrome showing immunophenotye similarities to Rosai-Dorfman disease

Infantile Cerebral and Cerebellar Atrophy Is Associated with a Mutation in the MED17 Subunit of the Transcription Preinitiation Mediator Complex

'Sick', irritable infant with fever, vomiting, bloody stool and abdominal distention (Case Presentation)

Adult-onset ornithine transcarbamylase (OTC) deficiency unmasked by the Atkins’ diet

Early Treatment With Alglucosidase Alfa Prolongs Long-Term Survival of Infants With Pompe Disease

Mutated NDUFS6 is the cause of fatal neonatal lactic acidemia in Caucasus Jews

SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis

Laser zona thinning in women aged ≤37 years: a randomized study

The significance of isolated elevation of serum aminotransferases in infants and young children

Clinical and molecular genetic features of ARC syndrome

A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease

DNA-based prenatal diagnosis for severe and variant forms of multiple acyl-CoA dehydrogenation deficiency

Mutations in VPS33B , encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome

Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder

Nonsyndromic Paucity of Interlobular Bile Ducts: Report of 10 Patients

Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia

A novel mutation in the deoxyguanosine kinase gene causing depletion of mitochondrial DNA

Depletion of the other genome-mitochondrial DNA depletion syndromes in humans

C7 complement deficiency in an Israeli Arab village

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