Found: 60
Select item for more details and to access through your institution.
What Can We Learn from the Parents of Children Affected with Mucopolysaccharidosis Type III-A in Israel?
- Published in:
- Molecular Syndromology, 2022, v. 13, n. 1, p. 45, doi. 10.1159/000519099
- By:
- Publication type:
- Article
CAOS—Episodic Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss.
- Published in:
- Journal of Child Neurology, 2015, v. 30, n. 13, p. 1749, doi. 10.1177/0883073815579708
- By:
- Publication type:
- Article
The Many Faces of Glut1 Deficiency Syndrome.
- Published in:
- Journal of Child Neurology, 2014, v. 29, n. 3, p. 349, doi. 10.1177/0883073812471718
- By:
- Publication type:
- Article
Nonsense mutation in the novel PERCC1 gene as a genetic cause of congenital diarrhea and enteropathy.
- Published in:
- Human Genetics, 2023, v. 142, n. 5, p. 691, doi. 10.1007/s00439-022-02486-1
- By:
- Publication type:
- Article
DHPLC screening for mutations in progressive familial intrahepatic cholestasis patients.
- Published in:
- Journal of Human Genetics, 2010, v. 55, n. 5, p. 308, doi. 10.1038/jhg.2010.28
- By:
- Publication type:
- Article
Genotype–phenotype correlations analysis of mutations in the phenylalanine hydroxylase ( PAH) gene.
- Published in:
- Journal of Human Genetics, 2008, v. 53, n. 5, p. 407, doi. 10.1007/s10038-008-0264-4
- By:
- Publication type:
- Article
Whole exome sequencing in childhood-onset lupus frequently detects single gene etiologies.
- Published in:
- Pediatric Rheumatology, 2019, v. 17, n. 1, p. N.PAG, doi. 10.1186/s12969-019-0349-y
- By:
- Publication type:
- Article
Deep intronic variant in the ARSB gene as the genetic cause for Maroteaux–Lamy syndrome (MPS VI).
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3804, doi. 10.1002/ajmg.a.62453
- By:
- Publication type:
- Article
A founder truncating variant in GDF1 causes autosomal‐recessive right isomerism and associated congenital heart defects in multiplex Arab kindreds.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 987, doi. 10.1002/ajmg.a.61509
- By:
- Publication type:
- Article
Novel homozygous ENPP1 mutation causes generalized arterial calcifications of infancy, thrombocytopenia, and cardiovascular and central nervous system syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 10, p. 2112, doi. 10.1002/ajmg.a.61334
- By:
- Publication type:
- Article
NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet ?-granules.
- Published in:
- Nature Genetics, 2011, v. 43, n. 8, p. 732, doi. 10.1038/ng.883
- By:
- Publication type:
- Article
Mutation of a new gene causes a unique form of Hermansky?Pudlak syndrome in a genetic isolate of central Puerto Rico.
- Published in:
- Nature Genetics, 2001, v. 28, n. 4, p. 376, doi. 10.1038/ng576
- By:
- Publication type:
- Article
Progressive pulmonary fibrosis in a murine model of Hermansky-Pudlak syndrome.
- Published in:
- 2022
- By:
- Publication type:
- journal article
A Human Integrin-α3 Mutation Confers Major Renal Developmental Defects.
- Published in:
- PLoS ONE, 2014, v. 9, n. 3, p. 1, doi. 10.1371/journal.pone.0090879
- By:
- Publication type:
- Article
Ex Vivo Treatment with a Novel Synthetic Aminoglycoside NB54 in Primary Fibroblasts from Rett Syndrome Patients Suppresses MECP2 Nonsense Mutations.
- Published in:
- PLoS ONE, 2011, v. 6, n. 6, p. 1, doi. 10.1371/journal.pone.0020733
- By:
- Publication type:
- Article
Unusual Presentation of Familial Glucocorticoid Deficiency with a Novel MRAP Mutation.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2006, v. 91, n. 10, p. 3713, doi. 10.1210/jc.2006-0687
- By:
- Publication type:
- Article
Mutations in the sarcosine dehydrogenase gene in patients with sarcosinemia.
- Published in:
- Human Genetics, 2012, v. 131, n. 11, p. 1805, doi. 10.1007/s00439-012-1207-x
- By:
- Publication type:
- Article
Megalencephalic leukoencephalopathy with subcortical cysts; a founder effect in Israeli patients and a higher than expected carrier rate among Libyan Jews.
- Published in:
- Human Genetics, 2002, v. 111, n. 2, p. 214, doi. 10.1007/s00439-002-0770-y
- By:
- Publication type:
- Article
Characterization of a partial pseudogene homologous to the Hermansky-Pudlak syndrome gene HPS-1; relevance for mutation detection.
- Published in:
- Human Genetics, 2000, v. 106, n. 3, p. 370, doi. 10.1007/s004390051053
- By:
- Publication type:
- Article
Reversal of Intestinal Failure With Teduglutide in PERCC1 -Associated Enteropathy: A Case Report.
- Published in:
- Annals of Internal Medicine, 2024, v. 177, n. 8, p. 1141, doi. 10.7326/M24-0147
- By:
- Publication type:
- Article
Carbonic Anhydrase II Deficiency: A Novel Mutation.
- Published in:
- 2009
- By:
- Publication type:
- Case Study
Progressive Pseudorheumatoid Dysplasia resolved by whole exome sequencing: a novel mutation in WISP3 and review of the literature.
- Published in:
- BMC Medical Genetics, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s12881-019-0787-x
- By:
- Publication type:
- Article
Estimating the Allele Frequency of Autosomal Recessive Disorders through Mutational Records and Consanguinity: The Homozygosity Index (HI).
- Published in:
- Annals of Human Genetics, 2012, v. 76, n. 2, p. 159, doi. 10.1111/j.1469-1809.2011.00693.x
- By:
- Publication type:
- Article
The effects of the COVID-19 pandemic on patients with lysosomal storage disorders in Israel.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood.
- Published in:
- Brain: A Journal of Neurology, 2014, v. 137, n. 4, p. 1107, doi. 10.1093/brain/awu022
- By:
- Publication type:
- Article
Hermansky–Pudlak Syndrome and Related Disorders of Organelle Formation.
- Published in:
- Traffic, 2000, v. 1, n. 11, p. 823, doi. 10.1034/j.1600-0854.2000.011103.x
- By:
- Publication type:
- Article
Griscelli Syndrome Type 3: Two New Cases and Review of the Literature.
- Published in:
- Pediatric Dermatology, 2015, v. 32, n. 6, p. e245, doi. 10.1111/pde.12663
- By:
- Publication type:
- Article
Neonatal Hyperpigmentation: Diagnosis of Familial Glucocorticoid Deficiency with a Novel Mutation in the Melanocortin-2 Receptor Gene.
- Published in:
- Pediatric Dermatology, 2014, v. 31, n. 1, p. e13, doi. 10.1111/pde.12247
- By:
- Publication type:
- Article
A Novel Mutation in a Critical Region for the Methyl Donor Binding in DNMT3B Causes Immunodeficiency, Centromeric Instability, and Facial Anomalies Syndrome (ICF).
- Published in:
- Journal of Clinical Immunology, 2016, v. 36, n. 8, p. 801, doi. 10.1007/s10875-016-0340-z
- By:
- Publication type:
- Article
Genetic and Structural Analysis of a SKIV2L Mutation Causing Tricho-hepato-enteric Syndrome.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Costeff syndrome: clinical features and natural history.
- Published in:
- Journal of Neurology, 2014, v. 261, n. 12, p. 2275, doi. 10.1007/s00415-014-7481-x
- By:
- Publication type:
- Article
Addition of galactose‐1‐phosphate measurement enhances newborn screening for classical galactosemia.
- Published in:
- Journal of Inherited Metabolic Disease, 2023, v. 46, n. 2, p. 232, doi. 10.1002/jimd.12580
- By:
- Publication type:
- Article
The role of orotic acid measurement in routine newborn screening for urea cycle disorders.
- Published in:
- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 3, p. 606, doi. 10.1002/jimd.12331
- By:
- Publication type:
- Article
Expanding the molecular diversity and phenotypic spectrum of glycerol 3-phosphate dehydrogenase 1 deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 5, p. 689, doi. 10.1007/s10545-016-9956-7
- By:
- Publication type:
- Article
Primary and maternal 3-methylcrotonyl-CoA carboxylase deficiency: insights from the Israel newborn screening program.
- Published in:
- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 2, p. 211, doi. 10.1007/s10545-015-9899-4
- By:
- Publication type:
- Article
Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature.
- Published in:
- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 6, p. 923, doi. 10.1007/s10545-012-9580-0
- By:
- Publication type:
- Article
Metabolic acetate therapy improves phenotype in the tremor rat model of Canavan disease.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, n. 3, p. 195, doi. 10.1007/s10545-010-9100-z
- By:
- Publication type:
- Article
Dominant PAX2 mutations may cause steroid-resistant nephrotic syndrome and FSGS in children.
- Published in:
- Pediatric Nephrology, 2019, v. 34, n. 9, p. 1607, doi. 10.1007/s00467-019-04256-0
- By:
- Publication type:
- Article
Exome sequencing in Jewish and Arab patients with rhabdomyolysis reveals single-gene etiology in 43% of cases.
- Published in:
- Pediatric Nephrology, 2017, v. 32, n. 12, p. 2273, doi. 10.1007/s00467-017-3755-8
- By:
- Publication type:
- Article
Clinical and molecular findings in a family with the carbonic anhydrase II deficiency syndrome.
- Published in:
- Pediatric Nephrology, 2006, v. 21, n. 3, p. 423, doi. 10.1007/s00467-005-2125-0
- By:
- Publication type:
- Article
Murine isoforms of UDP-GlcNAc 2-epimerase/ManNAc kinase: Secondary structures, expression profiles, and response to ManNAc therapy.
- Published in:
- Glycoconjugate Journal, 2013, v. 30, n. 6, p. 609, doi. 10.1007/s10719-012-9459-1
- By:
- Publication type:
- Article
Congenital Sucrase-isomaltase Deficiency: A Novel Compound Heterozygous Mutation Causing Aberrant Protein Localization.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Bitterness of Glucose/Galactose: Novel Mutations in the SLC5A1 Gene.
- Published in:
- 2014
- By:
- Publication type:
- Journal Article
Correction: Barak, S. et al. "Long-Term Outcomes of Early Enzyme Replacement Therapy for Mucopolysaccharidosis IV: Clinical Case Studies of Two Siblings". Diagnostics 2020, 10, 108.
- Published in:
- 2020
- By:
- Publication type:
- Correction Notice
Long-Term Outcomes of Early Enzyme Replacement Therapy for Mucopolysaccharidosis IV: Clinical Case Studies of Two Siblings.
- Published in:
- Diagnostics (2075-4418), 2020, v. 10, n. 2, p. 108, doi. 10.3390/diagnostics10020108
- By:
- Publication type:
- Article
Oculocutaneous albinism and bleeding diathesis due to a novel deletion in the HPS3 gene.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.936064
- By:
- Publication type:
- Article
Magnetic Resonance Imaging and Magnetic Resonance Spectroscopy in Isolated Sulfite Oxidase Deficiency.
- Published in:
- Journal of Child Neurology, 2007, v. 22, n. 10, p. 1214, doi. 10.1177/0883073807306260
- By:
- Publication type:
- Article
Use of a cDNA microarray to determine molecular mechanisms involved in grey platelet syndrome.
- Published in:
- British Journal of Haematology, 2003, v. 122, n. 1, p. 142, doi. 10.1046/j.1365-2141.2003.04410.x
- By:
- Publication type:
- Article
A Phase I clinical trial of dose-escalated metabolic therapy combined with concomitant radiation therapy in high-grade glioma.
- Published in:
- Journal of Neuro-Oncology, 2021, v. 153, n. 3, p. 487, doi. 10.1007/s11060-021-03786-8
- By:
- Publication type:
- Article
Netrin‐G2 dysfunction causes a Rett‐like phenotype with areflexia.
- Published in:
- Human Mutation, 2020, v. 41, n. 2, p. 476, doi. 10.1002/humu.23945
- By:
- Publication type:
- Article