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Diversity of β-globin mutations in Israeli ethnic groups reflects recent historic events

American journal of human genetics, 1994-05, Vol.54 (5), p.836-843

1994

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Toxic Neonatal Effects Following Maternal Clomipramine Therapy

Clinical toxicology (Philadelphia, Pa.), 1991, Vol.29 (4), p.479-484

1991

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Large-scale implementation of pooled RNA extraction and RT-PCR for SARS-CoV-2 detection

Clinical microbiology and infection, 2020-09, Vol.26 (9), p.1248-1253

2020

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Mutations in the phosphatidylinositol glycan C ( PIGC ) gene are associated with epilepsy and intellectual disability

Journal of medical genetics, 2017-03, Vol.54 (3), p.196-201

2017

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Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy

Nature genetics, 2001-11, Vol.29 (3), p.342-344

2001

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Mutations in LPIN1 Cause Recurrent Acute Myoglobinuria in Childhood

American journal of human genetics, 2008-10, Vol.83 (4), p.489-494

2008

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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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Lessons from applied large-scale pooling of 133,816 SARS-CoV-2 RT-PCR tests

Science translational medicine, 2021-04, Vol.13 (589)

2021

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Mitochondrial epileptic encephalopathy, 3‐methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations

Clinical genetics, 2017-05, Vol.91 (5), p.690-696

2017

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Type III 3-Methylglutaconic Aciduria (Optic Atrophy Plus Syndrome, or Costeff Optic Atrophy Syndrome): Identification of the OPA3 Gene and Its Founder Mutation in Iraqi Jews

American journal of human genetics, 2001-12, Vol.69 (6), p.1218-1224

2001

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Homozygous mutation in MFSD2A, encoding a lysolipid transporter for docosahexanoic acid, is associated with microcephaly and hypomyelination

Neurogenetics, 2018-12, Vol.19 (4), p.227-235

2018

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P.6.9 Childhood relapsing immune-mediated polyneuropathy and hemolysis is associated with CD59 deficiency

Neuromuscular disorders : NMD, 2013-10, Vol.23 (9), p.772-773

2013

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The Abundant Nuclear Enzyme PARP Participates in the Life Cycle of Simian Virus 40 and Is Stimulated by Minor Capsid Protein VP3

Journal of Virology, 2003-04, Vol.77 (7), p.4273-4282

2003

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Cellular Transcription Factor Sp1 Recruits Simian Virus 40 Capsid Proteins to the Viral Packaging Signal, ses

Journal of Virology, 2002-06, Vol.76 (12), p.5915-5924

2002

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827 Slc25A19 Mutation is a Novel Cause of Neuropathy and Bilateral Striatal Necrosis

Pediatric research, 2010-11, Vol.68 (Suppl 1), p.415-415

2010

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O23 – 1732 Childhood relapsing immune-mediated polyneuropathy and hemolysis is associated with CD59 deficiency

European journal of paediatric neurology, 2013-09, Vol.17, p.S8-S8

2013

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2FC1.5 Exome sequencing and disease prediction implicate a mutation in KIF1A as a cause of hereditary spastic paraparesis type 30

European journal of paediatric neurology, 2011-05, Vol.15, p.S19-S19

2011

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Clinical Characteristics and Muscle Pathology in Myopathic Mitochondrial DNA Depletion

Journal of child neurology, 2002-07, Vol.17 (7), p.499-504

2002

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The frequency of the C854 mutation in the aspartoacylase gene in Ashkenazi Jews in Israel

American journal of human genetics, 1994-08, Vol.55 (2), p.287-288

1994

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Glutaric aciduria type I in the arab and jewish communities in Israel

American journal of human genetics, 1996-11, Vol.59 (5), p.1012-1018

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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Mutation analysis of the MCM gene in Israeli patients with mut(0) disease

Molecular genetics and metabolism, 2001-05, Vol.73 (1), p.107-110

2001

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Lipoamide dehydrogenase deficiency in Ashkenazi Jews: An insertion mutation in the mitochondrial leader sequence

Human mutation, 1997, Vol.10 (3), p.256-257

1997

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Prenatal detection of Canavan disease (aspartoacylase deficiency) by DNA analysis

Journal of inherited metabolic disease, 1994-11, Vol.17 (6), p.664-666

1994

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

American journal of human genetics, 1995-01, Vol.57 (3), p.272-280

1995

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Diversity of β-globin mutations in Israeli ethnic groups reflects recent historic events

Toxic Neonatal Effects Following Maternal Clomipramine Therapy

Large-scale implementation of pooled RNA extraction and RT-PCR for SARS-CoV-2 detection

Mutations in the phosphatidylinositol glycan C ( PIGC ) gene are associated with epilepsy and intellectual disability

Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy

Mutations in LPIN1 Cause Recurrent Acute Myoglobinuria in Childhood

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

Lessons from applied large-scale pooling of 133,816 SARS-CoV-2 RT-PCR tests

Mitochondrial epileptic encephalopathy, 3‐methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations

Type III 3-Methylglutaconic Aciduria (Optic Atrophy Plus Syndrome, or Costeff Optic Atrophy Syndrome): Identification of the OPA3 Gene and Its Founder Mutation in Iraqi Jews

Homozygous mutation in MFSD2A, encoding a lysolipid transporter for docosahexanoic acid, is associated with microcephaly and hypomyelination

P.6.9 Childhood relapsing immune-mediated polyneuropathy and hemolysis is associated with CD59 deficiency

The Abundant Nuclear Enzyme PARP Participates in the Life Cycle of Simian Virus 40 and Is Stimulated by Minor Capsid Protein VP3

Cellular Transcription Factor Sp1 Recruits Simian Virus 40 Capsid Proteins to the Viral Packaging Signal, ses

827 Slc25A19 Mutation is a Novel Cause of Neuropathy and Bilateral Striatal Necrosis

O23 – 1732 Childhood relapsing immune-mediated polyneuropathy and hemolysis is associated with CD59 deficiency

2FC1.5 Exome sequencing and disease prediction implicate a mutation in KIF1A as a cause of hereditary spastic paraparesis type 30

Clinical Characteristics and Muscle Pathology in Myopathic Mitochondrial DNA Depletion

The frequency of the C854 mutation in the aspartoacylase gene in Ashkenazi Jews in Israel

Glutaric aciduria type I in the arab and jewish communities in Israel

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

Mutation analysis of the MCM gene in Israeli patients with mut(0) disease

Lipoamide dehydrogenase deficiency in Ashkenazi Jews: An insertion mutation in the mitochondrial leader sequence

Prenatal detection of Canavan disease (aspartoacylase deficiency) by DNA analysis

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

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