Found: 18
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Gene and Protein Expression in Subjects With a Nystagmus-Associated AHR Mutation.
- Published in:
- Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.582796
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- Publication type:
- Article
Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Clinical Characteristics of Autism Spectrum Disorder in Israel: Impact of Ethnic and Social Diversities.
- Published in:
- BioMed Research International, 2015, v. 2015, p. 1, doi. 10.1155/2015/962093
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- Publication type:
- Article
Parental mosaicism in another case of Dravet syndrome caused by a novel SCN1A deletion: a case report.
- Published in:
- 2016
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- Publication type:
- journal article
Sanfilippo type A: new clinical manifestations and neuro-imaging findings in patients from the same family in Israel: a case report.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
A novel biallelic loss‐of‐function mutation in TMCO1 gene confirming and expanding the phenotype spectrum of cerebro‐facio‐thoracic dysplasia.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 7, p. 1338, doi. 10.1002/ajmg.a.61168
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- Publication type:
- Article
Homozygous mutation in PTRH2 gene causes progressive sensorineural deafness and peripheral neuropathy.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 1051, doi. 10.1002/ajmg.a.38140
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- Publication type:
- Article
The Clinical Characteristics of ADHD Diagnosed in Adolescents in Comparison With Younger Children.
- Published in:
- 2020
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- Publication type:
- journal article
The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation.
- Published in:
- Brain: A Journal of Neurology, 2014, v. 137, n. 2, p. 411, doi. 10.1093/brain/awt338
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- Publication type:
- Article
High CCL2 Levels Detected in CSF of Patients with Pediatric Pseudotumor Cerebri Syndrome.
- Published in:
- Children, 2023, v. 10, n. 7, p. 1122, doi. 10.3390/children10071122
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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.
- Published in:
- Journal of Inherited Metabolic Disease, 2019, v. 42, n. 2, p. 264, doi. 10.1002/jimd.12022
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- Publication type:
- Article
Factors affecting the utilization of genetic counseling services among Israeli Arab women.
- Published in:
- Prenatal Diagnosis, 2015, v. 35, n. 4, p. 370, doi. 10.1002/pd.4550
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- Publication type:
- Article
SCAPER -Related Autosomal Recessive Retinitis Pigmentosa with Intellectual Disability: Confirming and Extending the Phenotypic Spectrum and Bioinformatics Analyses.
- Published in:
- Genes, 2024, v. 15, n. 6, p. 791, doi. 10.3390/genes15060791
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- Publication type:
- Article
PTRH2 Gene Variants: Recent Review of the Phenotypic Features and Their Bioinformatics Analysis.
- Published in:
- Genes, 2023, v. 14, n. 5, p. 1031, doi. 10.3390/genes14051031
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- Publication type:
- Article
CLN8 Gene Compound Heterozygous Variants: A New Case and Protein Bioinformatics Analyses.
- Published in:
- Genes, 2022, v. 13, n. 8, p. 1393, doi. 10.3390/genes13081393
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- Publication type:
- Article
Clinical Profile of Attention Deficit Hyperactivity Disorder: Impact of Ethnic and Social Diversities in Israel.
- Published in:
- Israel Medical Association Journal, 2016, v. 18, n. 6, p. 322
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- Publication type:
- Article
The prevailing trend of consanguinity in the Arab society of Israel: is it still a challenge?
- Published in:
- Journal of Biosocial Science, 2023, v. 55, n. 1, p. 169, doi. 10.1017/S0021932021000675
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- Publication type:
- Article
CHANGES IN MARRIAGE PATTERNS AMONG THE ARAB COMMUNITY IN ISRAEL OVER A 60-YEAR PERIOD.
- Published in:
- 2016
- By:
- Publication type:
- journal article