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Sixth Nerve Palsy in Children Etiology, Long-Term Course, and a Diagnostic Algorithm.
- Published in:
- Journal of Child Neurology, 2022, v. 37, n. 4, p. 281, doi. 10.1177/08830738211035912
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- Article
Hypocalcemia as the Initial Presentation of Type 2 Bartter Syndrome: A Family Report.
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- Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 4, p. e1679, doi. 10.1210/clinem/dgab821
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- Publication type:
- Article
Founder Effect with Variable Age at Onset in Arab Families with Lafora Disease and EPM2A Mutation.
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- Epilepsia (Series 4), 2007, v. 48, n. 5, p. 1011, doi. 10.1111/j.1528-1167.2007.01004.x
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- Publication type:
- Article
Inhaled Nitric Oxide for the Treatment of Acute Bronchiolitis: A Multicenter Randomized Controlled Clinical Trial to Evaluate Dose Response.
- Published in:
- Annals of the American Thoracic Society, 2023, v. 20, n. 2, p. 236, doi. 10.1513/AnnalsATS.202103-348OC
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- Publication type:
- Article
Wide clinical spectrum in a family with hereditary lymphedema type I due to a novel missense mutation in VEGFR3.
- Published in:
- Journal of Human Genetics, 2006, v. 51, n. 10, p. 846, doi. 10.1007/s10038-006-0031-3
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- Publication type:
- Article
Homozygous mutation in PTRH2 gene causes progressive sensorineural deafness and peripheral neuropathy.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 1051, doi. 10.1002/ajmg.a.38140
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- Article
Clinical characterization of a newly described neonatal diabetes syndrome caused by RFX6 mutations.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2821, doi. 10.1002/ajmg.a.34251
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- Publication type:
- Article
Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting.
- Published in:
- Nature Genetics, 2013, v. 45, n. 10, p. 1244, doi. 10.1038/ng.2739
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- Publication type:
- Article
Kawasaki Disease in Very Young infants: High Prevalence of Atypical Presentation and Coronary Arteritis.
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- Clinical Pediatrics, 2003, v. 42, n. 3, p. 263, doi. 10.1177/000992280304200310
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- Publication type:
- Article
Severe infantile epileptic encephalopathy associated with D-glyceric aciduria: report of a novel case and review.
- Published in:
- Metabolic Brain Disease, 2019, v. 34, n. 2, p. 557, doi. 10.1007/s11011-019-0384-x
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- Publication type:
- Article
A homozygous PIGO mutation associated with severe infantile epileptic encephalopathy and corpus callosum hypoplasia, but normal alkaline phosphatase levels.
- Published in:
- Metabolic Brain Disease, 2017, v. 32, n. 6, p. 2131, doi. 10.1007/s11011-017-0109-y
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- Publication type:
- Article
Combined loss of LAP1B and LAP1C results in an early onset multisystemic nuclear envelopathy.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. 1, doi. 10.1038/s41467-019-08493-7
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- Publication type:
- Article
Delineation of C12orf65-related phenotypes: a genotype-phenotype relationship.
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- European Journal of Human Genetics, 2014, v. 22, n. 8, p. 1019, doi. 10.1038/ejhg.2013.284
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- Publication type:
- Article
Deleterious mutation in FDX1L gene is associated with a novel mitochondrial muscle myopathy.
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- European Journal of Human Genetics, 2014, v. 22, n. 7, p. 902, doi. 10.1038/ejhg.2013.269
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- Publication type:
- Article
Mutated NDUFS6 is the cause of fatal neonatal lactic acidemia in Caucasus Jews.
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- European Journal of Human Genetics, 2009, v. 17, n. 9, p. 1200, doi. 10.1038/ejhg.2009.24
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- Publication type:
- Article
Diagnosis of familial Mediterranean fever following the initial presentation of monoarthritis.
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- International Journal of Rheumatic Diseases, 2018, v. 21, n. 3, p. 755, doi. 10.1111/1756-185X.12906
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- Publication type:
- Article
Lack of mitochondrial complex I assembly factor NDUFAF2 results in a distinctive infantile-onset brainstem neurodegenerative disease with early lethality.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03094-0
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- Publication type:
- Article
ANE syndrome caused by mutated RBM28 gene: a novel etiology of combined pituitary hormone deficiency.
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- European Journal of Endocrinology, 2010, v. 162, n. 6, p. 1021, doi. 10.1530/EJE-10-0077
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- Publication type:
- Article
Study of an FBXO7 patient mutation reveals Fbxo7 and PI31 co‐regulate proteasomes and mitochondria.
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- FEBS Journal, 2024, v. 291, n. 12, p. 2565, doi. 10.1111/febs.17114
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- Article
Extreme Clinical Variability of Dilated Cardiomyopathy in Two Siblings With Alström Syndrome.
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- 2013
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- Publication type:
- Report
Inhaled nitric oxide therapy in acute bronchiolitis: A multicenter randomized clinical trial.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-66433-8
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- Publication type:
- Article
Campylobacter gastroenteritis in children in north-eastern Israel comparison with other common pathogens.
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- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-62744-y
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- Publication type:
- Article
Secondary Diabetes Mellitus: Late Complication of Glycogen Storage Disease Type 1b.
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- Journal of Pediatric Endocrinology & Metabolism, 2005, v. 18, n. 6, p. 617, doi. 10.1515/jpem.2005.18.6.617
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- Publication type:
- Article
Patients' Attitudes Towards Disclosure of Genetic Test Results to Family Members: The Impact of Patients' Sociodemographic Background and Counseling Experience.
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- Journal of Genetic Counseling, 2016, v. 25, n. 2, p. 314, doi. 10.1007/s10897-015-9873-1
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- Publication type:
- Article
A novel de novo heterozygous pathogenic variant in the SDHA gene results in childhood onset bilateral optic atrophy and cognitive impairment.
- Published in:
- Metabolic Brain Disease, 2021, v. 36, n. 4, p. 581, doi. 10.1007/s11011-021-00671-1
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- Publication type:
- Article
The effects of the COVID-19 pandemic on patients with lysosomal storage disorders in Israel.
- Published in:
- 2021
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- Publication type:
- journal article
Genetic spectrum of hereditary neuropathies with onset in the first year of life.
- Published in:
- Brain: A Journal of Neurology, 2011, v. 134, n. 9, p. 2664, doi. 10.1093/brain/awr184
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- Article
Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors.
- Published in:
- 2017
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- Publication type:
- journal article
SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis.
- Published in:
- Annals of Neurology, 2009, v. 66, n. 3, p. 419, doi. 10.1002/ana.21752
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- Publication type:
- Article
Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies.
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- Journal of Inherited Metabolic Disease, 2024, v. 47, n. 4, p. 598, doi. 10.1002/jimd.12730
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- Publication type:
- Article
Molybdenum cofactor deficiency: A natural history.
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- Journal of Inherited Metabolic Disease, 2022, v. 45, n. 3, p. 456, doi. 10.1002/jimd.12488
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- Publication type:
- Article
Clinical, radiological, and genetic characteristics of 16 patients with ACO2 gene defects: Delineation of an emerging neurometabolic syndrome.
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- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 2, p. 264, doi. 10.1002/jimd.12022
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- Publication type:
- Article
Primary and maternal 3-methylcrotonyl-CoA carboxylase deficiency: insights from the Israel newborn screening program.
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- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 2, p. 211, doi. 10.1007/s10545-015-9899-4
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- Publication type:
- Article
TMEM70 deficiency: long-term outcome of 48 patients.
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- Journal of Inherited Metabolic Disease, 2015, v. 38, n. 3, p. 417, doi. 10.1007/s10545-014-9774-8
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- Publication type:
- Article
Erratum to: TMEM70 deficiency: long-term outcome of 48 patients.
- Published in:
- 2015
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- Publication type:
- Erratum
Author Correction: Inhaled nitric oxide therapy in acute bronchiolitis: A multicenter randomized clinical trial.
- Published in:
- 2020
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- Publication type:
- Correction Notice
A novel mutation in the albumin gene (c.1A>C) resulting in analbuminemia.
- Published in:
- European Journal of Clinical Investigation, 2013, v. 43, n. 1, p. 72, doi. 10.1111/eci.12019
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- Publication type:
- Article
Severe Meningoencephalitis Due to Late Reactivation of Varicella-Zoster Virus in an Immunocompetent Child.
- Published in:
- Journal of Child Neurology, 2010, v. 25, n. 1, p. 87, doi. 10.1177/0883073809336296
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- Publication type:
- Article
Late Relapse of Herpes Simplex Virus Encephalitis in a Child Due to Reactivation of Latent Virus: Clinicopathological Report and Review.
- Published in:
- Journal of Child Neurology, 2008, v. 23, n. 3, p. 344, doi. 10.1177/0883073807309243
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- Publication type:
- Article
Intrafamilial Phenotypic Variability in Two Siblings with Primary Ciliary Dyskinesia Due to Homozygous Loss of Function Mutation in the CCDC151 Gene.
- Published in:
- Israel Medical Association Journal, 2020, v. 22, n. 4, p. 260
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- Publication type:
- Article
Biotinidase Deficiency: A Treatable Neurological Inborn Error of Metabolism.
- Published in:
- Israel Medical Association Journal, 2019, v. 21, n. 3, p. 219
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- Publication type:
- Article
Degenerative Osteoarthritis with Multiple Joint Arthroplasties Due to Alkaptonuria: A Rare Inborn Error of Tyrosine Metabolism.
- Published in:
- Israel Medical Association Journal, 2018, v. 20, n. 4, p. 260
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- Publication type:
- Article
Hydrops fetalis: an unusual prenatal presentation of hereditary congenital lymphedema.
- Published in:
- Prenatal Diagnosis, 2005, v. 25, n. 11, p. 1015, doi. 10.1002/pd.1237
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- Publication type:
- Article
Hereditary orotic aciduria identified by newborn screening.
- Published in:
- Frontiers in Genetics, 2023, v. 14, p. 1, doi. 10.3389/fgene.2023.1135267
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- Publication type:
- Article
Case Report: A Case of a Patient with Smith–Magenis Syndrome and Early-Onset Parkinson's Disease.
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- International Journal of Molecular Sciences, 2024, v. 25, n. 15, p. 8447, doi. 10.3390/ijms25158447
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- Publication type:
- Article
Homozygous mutation in the APOA1BP is associated with a lethal infantile leukoencephalopathy.
- Published in:
- Neurogenetics, 2016, v. 17, n. 3, p. 187, doi. 10.1007/s10048-016-0483-3
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- Publication type:
- Article
Conventional magnetic resonance imaging and diffusion tensor imaging studies in children with novel GPR56 mutations: further delineation of a cobblestone-like phenotype.
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- Neurogenetics, 2013, v. 14, n. 1, p. 77, doi. 10.1007/s10048-012-0352-7
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- Publication type:
- Article
Establishing hospital admission criteria of pediatric Henoch-Schonlein purpura.
- Published in:
- Rheumatology International, 2014, v. 34, n. 11, p. 1497, doi. 10.1007/s00296-014-2971-9
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- Publication type:
- Article
Primary autoimmune myelofibrosis: A case report in a child.
- Published in:
- EJHaem, 2020, v. 1, n. 1, p. 1, doi. 10.1002/jha2.38
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- Publication type:
- Article
Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency.
- Published in:
- PLoS ONE, 2017, v. 12, n. 5, p. 1, doi. 10.1371/journal.pone.0176363
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- Publication type:
- Article