Found: 47
Select item for more details and to access through your institution.
Novel PHKG2 mutation causing GSD IX with prominent liver disease: report of three cases and review of literature.
- Published in:
- European Journal of Pediatrics, 2014, v. 173, n. 5, p. 647, doi. 10.1007/s00431-013-2223-0
- By:
- Publication type:
- Article
Dyggve-Melchior-Clausen syndrome: novel splice mutation with atlanto-axial subluxation.
- Published in:
- 2011
- By:
- Publication type:
- Report
Munchausen syndrome by proxy mimicking as Gaucher disease.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Novel FBP1 gene mutations in Arab patients with fructose-1,6-bisphosphatase deficiency.
- Published in:
- 2009
- By:
- Publication type:
- journal article
Identification of the TTC26 Splice Variant in a Novel Complex Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations.
- Published in:
- Molecular Syndromology, 2021, v. 12, n. 3, p. 133, doi. 10.1159/000513829
- By:
- Publication type:
- Article
A novel mutation and first report of dilatedcardiomyopathy in ALG6-CDG (CDG-Ic): a casereport.
- Published in:
- 2010
- By:
- Publication type:
- Case Study
EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Identification of TMC1 as a relatively common cause for nonsyndromic hearing loss in the Saudi population.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2020, v. 183, n. 3, p. 172, doi. 10.1002/ajmg.b.32774
- By:
- Publication type:
- Article
Depression in adult patients with biotin responsive basal ganglia disease.
- Published in:
- Drug Discoveries & Therapeutics, 2016, v. 10, n. 4, p. 223, doi. 10.5582/ddt.2016.01046
- By:
- Publication type:
- Article
The genotypic and phenotypic spectrum of pycnodysostosis in Saudi Arabia: Novel variants and clinical findings.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2455, doi. 10.1002/ajmg.a.62230
- By:
- Publication type:
- Article
Delineating the phenotypic spectrum of hyperphosphatasia with mental retardation syndrome 4 in 14 patients of Middle‐Eastern origin.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 12, p. 2850, doi. 10.1002/ajmg.a.40627
- By:
- Publication type:
- Article
Spectrum of bone marrow pathology and hematological abnormalities in methylmalonic acidemia.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 3, p. 687, doi. 10.1002/ajmg.a.38599
- By:
- 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
- By:
- Publication type:
- Article
ADAT3-related intellectual disability: Further delineation of the phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 5, p. 1142, doi. 10.1002/ajmg.a.37578
- By:
- Publication type:
- Article
Novel homozygous DEAF1 variant suspected in causing white matter disease, intellectual disability, and microcephaly.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 6, p. 1565, doi. 10.1002/ajmg.a.36482
- By:
- Publication type:
- Article
Map of autosomal recessive genetic disorders in Saudi Arabia: Concepts and future directions.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2629, doi. 10.1002/ajmg.a.35551
- By:
- Publication type:
- Article
A case of de Barsy syndrome with a severe eye phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 9, p. 2364, doi. 10.1002/ajmg.a.35507
- By:
- Publication type:
- Article
Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.
- Published in:
- Nature Genetics, 2013, v. 45, n. 1, p. 83, doi. 10.1038/ng.2497
- By:
- Publication type:
- Article
Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus.
- Published in:
- Nature Genetics, 2011, v. 43, n. 12, p. 1186, doi. 10.1038/ng.975
- By:
- Publication type:
- Article
Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases.
- Published in:
- Genome Medicine, 2023, v. 15, n. 1, p. 1, doi. 10.1186/s13073-023-01270-8
- By:
- Publication type:
- Article
New Findings in a Global Approach to Dissect the Whole Phenotype of <i>PLA2G6</i> Gene Mutations.
- Published in:
- PLoS ONE, 2013, v. 8, n. 10, p. 1, doi. 10.1371/journal.pone.0076831
- By:
- Publication type:
- Article
Novel ANO5 homozygous microdeletion causing myalgia and unprovoked rhabdomyolysis in an Arabic man.
- Published in:
- Muscle & Nerve, 2014, v. 50, n. 4, p. 610, doi. 10.1002/mus.24302
- By:
- Publication type:
- Article
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
- Published in:
- Human Genetics, 2017, v. 136, n. 8, p. 921, doi. 10.1007/s00439-017-1821-8
- By:
- Publication type:
- Article
Clinical, neuroimaging, and genetic features of L-2-hydroxyglutaric aciduria in Arab kindreds.
- Published in:
- Annals of Saudi Medicine, 2014, v. 34, n. 2, p. 107, doi. 10.5144/0256-4947.2014.107
- By:
- Publication type:
- Article
Novel mutations in TGM1 and ABCA12 cause autosomal recessive congenital ichthyosis in five Saudi families.
- Published in:
- International Journal of Dermatology, 2016, v. 55, n. 6, p. 673, doi. 10.1111/ijd.13279
- By:
- Publication type:
- Article
Progressive Sclerodermatous Skin Changes in a Child with Phenylketonuria.
- Published in:
- Pediatric Dermatology, 2006, v. 23, n. 2, p. 136, doi. 10.1111/j.1525-1470.2006.00198.x
- By:
- Publication type:
- Article
Hematological findings associated with tubulin‐folding cofactors D‐related encephalopathy: Expanding the phenotype.
- Published in:
- Clinical Genetics, 2021, v. 99, n. 5, p. 724, doi. 10.1111/cge.13932
- By:
- Publication type:
- Article
Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Mutations of KIF14 cause primary microcephaly by impairing cytokinesis.
- Published in:
- 2017
- By:
- Publication type:
- journal article
ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies.
- Published in:
- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 5, p. 713, doi. 10.1007/s10545-016-9945-x
- By:
- Publication type:
- Article
Erratum to: ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies.
- Published in:
- 2016
- By:
- Publication type:
- Erratum
Clinical and biochemical features associated with BCS1L mutation.
- Published in:
- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 5, p. 813, doi. 10.1007/s10545-012-9536-4
- By:
- Publication type:
- Article
Medium‐chain acyl‐CoA dehydrogenase deficiency in Saudi Arabia: incidence, genotype, and preventive implications.
- Published in:
- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 263, doi. 10.1007/s10545-010-9143-1
- By:
- Publication type:
- Article
Lunapark deficiency leads to an autosomal recessive neurodevelopmental phenotype with a degenerative course, epilepsy and distinct brain anomalies.
- Published in:
- Brain Communications, 2023, v. 5, n. 5, p. 1, doi. 10.1093/braincomms/fcad222
- By:
- Publication type:
- Article
Clinical, Endocrine, and Molecular Genetic Analysis of a Large Cohort of Saudi Arabian Patients with Laron Syndrome.
- Published in:
- Hormone Research in Paediatrics, 2017, v. 88, n. 2, p. 119, doi. 10.1159/000475991
- By:
- Publication type:
- Article
Clinical and Molecular Spectrum of Autosomal Recessive CA8‐Related Cerebellar Ataxia.
- Published in:
- Movement Disorders, 2024, v. 39, n. 6, p. 983, doi. 10.1002/mds.29754
- By:
- Publication type:
- Article
Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 6, p. 1448, doi. 10.1002/ajmg.a.34025
- By:
- Publication type:
- Article
Propionic Acidemia Associated With Visual Hallucinations.
- Published in:
- Journal of Child Neurology, 2012, v. 27, n. 6, p. 799, doi. 10.1177/0883073811426929
- By:
- Publication type:
- Article
Sphingolipid Activator Protein B Deficiency: Report of 9 Saudi Patients and Review of the Literature.
- Published in:
- Journal of Child Neurology, 2009, v. 24, n. 12, p. 1513, doi. 10.1177/0883073809341269
- By:
- Publication type:
- Article
Muscle Phosphofructokinase Deficiency With Neonatal Seizures and Nonprogressive Course.
- Published in:
- Journal of Child Neurology, 2007, v. 22, n. 1, p. 106, doi. 10.1177/0883073807299968
- By:
- Publication type:
- Article
Two novel LHX3 mutations in patients with combined pituitary hormone deficiency including cervical rigidity and sensorineural hearing loss.
- Published in:
- BMC Endocrine Disorders, 2017, v. 17, p. 1, doi. 10.1186/s12902-017-0164-8
- By:
- Publication type:
- Article
Renal failure associated with APECED and terminal 4q deletion: evidence of autoimmune nephropathy.
- Published in:
- 2010
- By:
- Publication type:
- Journal Article
Renal Failure Associated with APECED and Terminal 4<sub>q</sub> Deletion: Evidence of Autoimmune Nephropathy.
- Published in:
- Clinical & Developmental Immunology, 2010, p. 1, doi. 10.1155/2010/586342
- By:
- Publication type:
- Article
Molecular and clinical spectra of FBXL4 deficiency.
- Published in:
- Human Mutation, 2017, v. 38, n. 12, p. 1649, doi. 10.1002/humu.23341
- By:
- Publication type:
- Article
Identification of Novel CDH23 Variants Causing Moderate to Profound Progressive Nonsyndromic Hearing Loss.
- Published in:
- Genes, 2020, v. 11, n. 12, p. 1474, doi. 10.3390/genes11121474
- By:
- Publication type:
- Article
Genetic basis of pulmonary arterial hypertension: a prospective study from a highly inbred population.
- Published in:
- Pulmonary Circulation, 2021, v. 11, n. 3, p. 1, doi. 10.1177/20458940211032057
- By:
- Publication type:
- Article
A comprehensive introduction to the genetic basis of non-syndromic hearing loss in the Saudi Arabian population.
- Published in:
- BMC Medical Genetics, 2011, v. 12, n. 1, p. 91, doi. 10.1186/1471-2350-12-91
- By:
- Publication type:
- Article