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Lack of mitochondrial complex I assembly factor NDUFAF2 results in a distinctive infantile-onset brainstem neurodegenerative disease with early lethality

Orphanet journal of rare diseases, 2024-02, Vol.19 (1), p.92-92, Article 92

2024

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Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency

PloS one, 2017-05, Vol.12 (5), p.e0176363-e0176363

2017

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A novel de novo heterozygous pathogenic variant in the SDHA gene results in childhood onset bilateral optic atrophy and cognitive impairment

Metabolic brain disease, 2021-04, Vol.36 (4), p.581-588

2021

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Favorable outcomes following early onset oral miglustat in early infantile Niemann Pick Type C

Molecular genetics and metabolism reports, 2021-06, Vol.27, p.100739, Article 100739

2021

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The effects of the COVID-19 pandemic on patients with lysosomal storage disorders in Israel

Orphanet journal of rare diseases, 2021-09, Vol.16 (1), p.379-379, Article 379

2021

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Favorable outcome of empagliflozin treatment in two pediatric glycogen storage disease type 1b patients

Frontiers in pediatrics, 2022-11, Vol.10, p.1071464-1071464

2022

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A favorable outcome in an infantile-onset Pompe patient with cross reactive immunological material (CRIM) negative disease with high dose enzyme replacement therapy and adjusted immunomodulation

Molecular genetics and metabolism reports, 2022-09, Vol.32, p.100893-100893, Article 100893

2022

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The evolving role of whole-exome sequencing in the management of disorders of sex development

Endocrine Connections, 2021-06, Vol.10 (6), p.620-629

2021

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A Novel Homozygous Missense Variant in the LRRC32 Gene Is Associated With a New Syndrome of Cleft Palate, Progressive Vitreoretinopathy, Growth Retardation, and Developmental Delay

Frontiers in pediatrics, 2022-05, Vol.10, p.859034-859034

2022

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Apparent mineralocorticoid excess in Israel: a case series and literature review

European journal of endocrinology, 2024-05, Vol.190 (5), p.347-353

2024

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De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy

European journal of medical genetics, 2017-06, Vol.60 (6), p.317-320

2017

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Intrafamilial Phenotypic Variability in Two Siblings with Primary Ciliary Dyskinesia Due to Homozygous Loss of Function Mutation in the CCDC151 Gene

The Israel Medical Association journal, 2020-04, Vol.22 (4), p.260-262

2020

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The utility of next generation sequencing in the correct diagnosis of congenital hypochloremic hypokalemic metabolic alkalosis

European journal of medical genetics, 2019-10, Vol.62 (10), p.103728-103728, Article 103728

2019

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Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage

American journal of human genetics, 2023-04, Vol.110 (4), p.681-690

2023

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Biotinidase Deficiency: A Treatable Neurological Inborn Error of Metabolism

The Israel Medical Association journal, 2019-03, Vol.21 (3), p.219-221

2019

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The landscape of autosomal recessive variants in an isolated community: Implications for population screening for reproductive purposes

Clinical genetics, 2021-11, Vol.100 (5), p.522-528

2021

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Severe Acute Mastoiditis Admission is Not Related to Delayed Antibiotic Treatment for Antecedent Acute Otitis Media

The Pediatric infectious disease journal, 2016-02, Vol.35 (2), p.162-165

2016

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Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase

PloS one, 2017-05, Vol.12 (5), p.e0176363

2017

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A homozygous PIGO mutation associated with severe infantile epileptic encephalopathy and corpus callosum hypoplasia, but normal alkaline phosphatase levels

Metabolic brain disease, 2017-12, Vol.32 (6), p.2131-2137

2017

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High Prevalence of Hearing Impairment in Primary Congenital Hypothyroidism

European thyroid journal, 2021-06, Vol.10 (3), p.215-221

2021

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Severe infantile epileptic encephalopathy associated with D-glyceric aciduria: report of a novel case and review

Metabolic brain disease, 2019-04, Vol.34 (2), p.557-563

2019

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Favorable outcomes following early onset oral miglustat in early infantile Niemann Pick Type C

Molecular genetics and metabolism reports, 2021, Vol.27, p.100739-100739

2021

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Multichannel Opportunistic Carrier Sensing for Stable Channel Access Control in Cognitive Radio Systems

IEEE journal on selected areas in communications, 2012-01, Vol.30 (1), p.82-95

2012

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Microbiome niche modification drives diurnal rumen community assembly, overpowering individual variability and diet effects

The ISME Journal, 2018-10, Vol.12 (10), p.2446-2457

2018

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Abdominal pregnancy following in vitro fertilization in a patient with previous bilateral salpingectomy

Obstetrics and gynecology (New York. 1953), 1996-10, Vol.88 (4 Pt 2), p.642-643

1996

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Lack of mitochondrial complex I assembly factor NDUFAF2 results in a distinctive infantile-onset brainstem neurodegenerative disease with early lethality

Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency

A novel de novo heterozygous pathogenic variant in the SDHA gene results in childhood onset bilateral optic atrophy and cognitive impairment

Favorable outcomes following early onset oral miglustat in early infantile Niemann Pick Type C

The effects of the COVID-19 pandemic on patients with lysosomal storage disorders in Israel

Favorable outcome of empagliflozin treatment in two pediatric glycogen storage disease type 1b patients

A favorable outcome in an infantile-onset Pompe patient with cross reactive immunological material (CRIM) negative disease with high dose enzyme replacement therapy and adjusted immunomodulation

The evolving role of whole-exome sequencing in the management of disorders of sex development

A Novel Homozygous Missense Variant in the LRRC32 Gene Is Associated With a New Syndrome of Cleft Palate, Progressive Vitreoretinopathy, Growth Retardation, and Developmental Delay

Apparent mineralocorticoid excess in Israel: a case series and literature review

De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathy

Intrafamilial Phenotypic Variability in Two Siblings with Primary Ciliary Dyskinesia Due to Homozygous Loss of Function Mutation in the CCDC151 Gene

The utility of next generation sequencing in the correct diagnosis of congenital hypochloremic hypokalemic metabolic alkalosis

Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage

Biotinidase Deficiency: A Treatable Neurological Inborn Error of Metabolism

The landscape of autosomal recessive variants in an isolated community: Implications for population screening for reproductive purposes

Severe Acute Mastoiditis Admission is Not Related to Delayed Antibiotic Treatment for Antecedent Acute Otitis Media

Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase

A homozygous PIGO mutation associated with severe infantile epileptic encephalopathy and corpus callosum hypoplasia, but normal alkaline phosphatase levels

High Prevalence of Hearing Impairment in Primary Congenital Hypothyroidism

Severe infantile epileptic encephalopathy associated with D-glyceric aciduria: report of a novel case and review

Favorable outcomes following early onset oral miglustat in early infantile Niemann Pick Type C

Multichannel Opportunistic Carrier Sensing for Stable Channel Access Control in Cognitive Radio Systems

Microbiome niche modification drives diurnal rumen community assembly, overpowering individual variability and diet effects

Abdominal pregnancy following in vitro fertilization in a patient with previous bilateral salpingectomy

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