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A founder variant expands the phenotype of WNT7B‐related PDAC syndrome.
- Published in:
- Clinical Genetics, 2024, v. 106, n. 1, p. 66, doi. 10.1111/cge.14512
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- Article
Bi-allelic variants in HCRT cause autosomal recessive narcolepsy.
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- Neurogenetics, 2024, v. 25, n. 2, p. 79, doi. 10.1007/s10048-024-00744-0
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- Article
Variable phenotype of a null PPP1R13L allele in children with dilated cardiomyopathy.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 1, p. 59, doi. 10.1002/ajmg.a.63402
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- Article
Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases.
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- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01270-8
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- Publication type:
- Article
Novel TLR7 hemizygous variant in post-COVID-19 neurological deterioration: a case report with literature review.
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- Frontiers in Neurology, 2023, p. 01, doi. 10.3389/fneur.2023.1268035
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- Article
Phenotype and genotype of 15 Saudi patients with achromatopsia: A case series.
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- Saudi Journal of Ophthalmology, 2023, v. 37, n. 4, p. 301, doi. 10.4103/sjopt.sjopt_108_23
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- Article
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-40909-3
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- Article
Association of IMMP2L deletion with neurodevelopmental disorders: new case report and review of the literature.
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- Journal of Biochemical & Clinical Genetics, 2023, v. 6, n. 2, p. 153, doi. 10.24911/JBCGenetics/183-1672039791
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- Article
CLEC16A interacts with retromer and TRIM27, and its loss impairs endosomal trafficking and neurodevelopment.
- Published in:
- Human Genetics, 2023, v. 142, n. 3, p. 379, doi. 10.1007/s00439-022-02511-3
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- Article
Spectrum of FAR1 (Fatty Acyl‐CoA Reductase 1) Variants and Related Neurological Conditions.
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- Movement Disorders, 2023, v. 38, n. 3, p. 502, doi. 10.1002/mds.29323
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- Article
Further delineation of GEMIN4 related neurodevelopmental disorder with microcephaly, cataract, and renal abnormalities syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 10, p. 2932, doi. 10.1002/ajmg.a.62894
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- Article
Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy.
- Published in:
- 2022
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- Publication type:
- journal article
Biallelic ZNFX1 variants are associated with a spectrum of immuno‐hematological abnormalities.
- Published in:
- Clinical Genetics, 2022, v. 101, n. 2, p. 247, doi. 10.1111/cge.14081
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- Article
Mitochondrial "dysmorphology" in variant classification.
- Published in:
- Human Genetics, 2022, v. 141, n. 1, p. 55, doi. 10.1007/s00439-021-02378-w
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- Article
Molecular autopsy by proxy in preconception counseling.
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- Clinical Genetics, 2021, v. 100, n. 6, p. 678, doi. 10.1111/cge.14049
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- Article
Lethal variants in humans: lessons learned from a large molecular autopsy cohort.
- Published in:
- Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00973-0
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- Publication type:
- Article
Survey of disorders of sex development in a large cohort of patients with diverse Mendelian phenotypes.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 9, p. 2789, doi. 10.1002/ajmg.a.61876
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- Article
The genotypic and phenotypic spectrum of pycnodysostosis in Saudi Arabia: Novel variants and clinical findings.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2455, doi. 10.1002/ajmg.a.62230
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- Publication type:
- Article
Further delineation of SMG9‐related heart and brain malformation syndrome.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 5, p. 1624, doi. 10.1002/ajmg.a.62139
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- Publication type:
- Article
Proteus syndrome caused by novel somatic AKT1 duplication.
- Published in:
- Saudi Medical Journal, 2021, v. 42, n. 1, p. 95, doi. 10.15537/smj.2021.1.25618
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- Article
An exome-first approach to aid in the diagnosis of primary ciliary dyskinesia.
- Published in:
- Human Genetics, 2020, v. 139, n. 10, p. 1273, doi. 10.1007/s00439-020-02170-2
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- Article
Epilepsy, neuropsychiatric phenotypes, neuroimaging findings, and genotype-neurophenotype correlation in 22q11.2 deletion syndrome.
- Published in:
- Neurosciences, 2020, v. 25, n. 4, p. 287, doi. 10.17712/nsj.2020.4.20200045
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- Article
ADAMTS19‐associated heart valve defects: Novel genetic variants consolidating a recognizable cardiac phenotype.
- Published in:
- Clinical Genetics, 2020, v. 98, n. 1, p. 56, doi. 10.1111/cge.13760
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- Publication type:
- Article
Incidence of newborn screening disorders among 56632 infants in Central Saudi Arabia: A 6-year study.
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- Saudi Medical Journal, 2020, v. 41, n. 7, p. 703, doi. 10.15537/smj.2020.7.25147
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- Publication type:
- Article
Molecular and clinical characteristics of very long-chain acyl-CoA dehydrogenase deficiency: A single-center experience in Saudi Arabia.
- Published in:
- Saudi Medical Journal, 2020, v. 41, n. 6, p. 590, doi. 10.15537/smj.2020.6.25131
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- Publication type:
- Article
Fructose-1,6-bisphosphatase deficiency with confirmed molecular diagnosis. An important cause of hypoglycemia in children.
- Published in:
- Saudi Medical Journal, 2020, v. 41, n. 2, p. 199, doi. 10.15537/smj.2020.2.24885
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- Publication type:
- Article
Peripheral venous route for administration of ammonul infusion for treatment of acute hyperammonemia. An experience from a tertiary center in Saudi Arabia.
- Published in:
- Saudi Medical Journal, 2020, v. 41, n. 1, p. 98, doi. 10.15537/smj.2020.1.24760
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- Publication type:
- Article
MDH1 deficiency is a metabolic disorder of the malate–aspartate shuttle associated with early onset severe encephalopathy.
- Published in:
- Human Genetics, 2019, v. 138, n. 11/12, p. 1247, doi. 10.1007/s00439-019-02063-z
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- Article
Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome.
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- 2019
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- Publication type:
- journal article
A homozygous frameshift variant in an alternatively spliced exon of DLG5 causes hydrocephalus and renal dysplasia.
- Published in:
- Clinical Genetics, 2019, v. 95, n. 5, p. 631, doi. 10.1111/cge.13513
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- Publication type:
- Article
The many faces of peroxisomal disorders: Lessons from a large Arab cohort.
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- Clinical Genetics, 2019, v. 95, n. 2, p. 310, doi. 10.1111/cge.13481
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- Publication type:
- Article
Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies).
- Published in:
- Human Genetics, 2018, v. 137, n. 9, p. 753, doi. 10.1007/s00439-018-1929-5
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- Publication type:
- Article
Further delineation of Temtamy syndrome of corpus callosum and ocular abnormalities.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 3, p. 715, doi. 10.1002/ajmg.a.38615
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- Article
Correction to: Expanding the genetic heterogeneity of intellectual disability.
- Published in:
- 2018
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- Publication type:
- Correction Notice
Expanding the genetic heterogeneity of intellectual disability.
- Published in:
- Human Genetics, 2017, v. 136, n. 11/12, p. 1419, doi. 10.1007/s00439-017-1843-2
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- Publication type:
- Article
Congenital disorders of glycosylation: The Saudi experience.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 10, p. 2614, doi. 10.1002/ajmg.a.38358
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- Publication type:
- Article
Neuroregression, coarse features, and oligosaccharides in urines.
- Published in:
- Neurosciences, 2017, v. 22, n. 4, p. 325, doi. 10.17712/nsj.2017.4.20170193
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- Publication type:
- Article
Neurological expression of an inherited translocation of chromosomal 1 and 7.
- Published in:
- Neurosciences, 2017, v. 22, n. 1, p. 62, doi. 10.17712/nsj.2017.1.20160436
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- Article
Homozygous KCNMA1 mutation as a cause of cerebellar atrophy, developmental delay and seizures.
- Published in:
- Human Genetics, 2016, v. 135, n. 11, p. 1295, doi. 10.1007/s00439-016-1726-y
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- Publication type:
- Article
Crisponi/CISS1 syndrome: A case series.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1236, doi. 10.1002/ajmg.a.37569
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- Publication type:
- Article
Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue.
- Published in:
- Human Genetics, 2016, v. 135, n. 5, p. 525, doi. 10.1007/s00439-016-1660-z
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- Publication type:
- Article
KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome.
- Published in:
- Genome Biology, 2015, v. 16, p. 1, doi. 10.1186/s13059-015-0858-z
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- Publication type:
- Article
Severe CNS Involvement in WWOX Mutations: Description of Five New Cases.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3209, doi. 10.1002/ajmg.a.37363
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- Publication type:
- Article
Identification of a novel MKS locus defined by TMEM107 mutation.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 18, p. 5211, doi. 10.1093/hmg/ddv242
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- Publication type:
- Article
IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet–Biedl syndrome.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 12, p. 3307, doi. 10.1093/hmg/ddu044
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- Article
Ciliary Genes TBC1 D32/ C6orf170 and SCLT1 are Mutated in Patients with OFD Type IX.
- Published in:
- Human Mutation, 2014, v. 35, n. 1, p. 36, doi. 10.1002/humu.22477
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- Publication type:
- Article