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Identification of novel genomic imbalances in Saudi patients with congenital heart disease.
- Published in:
- Molecular Cytogenetics (17558166), 2018, v. 11, p. 1, doi. 10.1186/s13039-018-0356-6
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- Publication type:
- Article
Expanded Newborn Screening Program in Saudi Arabia: Incidence of screened disorders.
- Published in:
- 2017
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- Publication type:
- journal article
A novel homozygous SCN5A variant detected in sick sinus syndrome.
- Published in:
- Pacing & Clinical Electrophysiology, 2021, v. 44, n. 2, p. 380, doi. 10.1111/pace.14077
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- Publication type:
- Article
A novel X-linked disorder with developmental delay and autistic features.
- Published in:
- Annals of Neurology, 2012, v. 71, n. 4, p. 498, doi. 10.1002/ana.22673
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- Publication type:
- Article
Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report.
- Published in:
- BMC Medical Genetics, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s12881-019-0747-5
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- Publication type:
- Article
LRRK2 Loss‐of‐Function Variants in Patients with Rare Diseases: No Evidence for a Phenotypic Impact.
- Published in:
- Movement Disorders, 2021, v. 36, n. 4, p. 1029, doi. 10.1002/mds.28452
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- Publication type:
- Article
Novel FBP1 gene mutations in Arab patients with fructose-1,6-bisphosphatase deficiency.
- Published in:
- 2009
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- Publication type:
- journal article
Identifying new genetic causes of pediatric cardiomyopathy by exome sequencing and zebrafish modeling.
- Published in:
- Cardiology in the Young, 2022, v. 32, n. S2, p. S3, doi. 10.1017/S1047951122001950
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- Publication type:
- Article
The many faces of peroxisomal disorders: Lessons from a large Arab cohort.
- Published in:
- Clinical Genetics, 2019, v. 95, n. 2, p. 310, doi. 10.1111/cge.13481
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- Publication type:
- Article
Higher dose alglucosidase alfa is associated with improved overall survival in infantile-onset Pompe disease (IOPD): data from the Pompe Registry.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02981-2
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- Publication type:
- Article
Correction: Expert Group Consensus on early diagnosis and management of infantile-onset pompe disease in the Gulf Region.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02967-0
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- Publication type:
- Article
Preimplantation genetic diagnosis of Morquio disease.
- Published in:
- Prenatal Diagnosis, 2008, v. 28, n. 10, p. 900, doi. 10.1002/pd.2081
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- Publication type:
- Article
Molecular Dynamics Simulation Reveals Exposed Residues in the Ligand-Binding Domain of the Low-Density Lipoprotein Receptor that Interacts with Vesicular Stomatitis Virus-G Envelope.
- Published in:
- Viruses (1999-4915), 2019, v. 11, n. 11, p. 1063, doi. 10.3390/v11111063
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- Publication type:
- Article
In search of triallelism in Bardet-Biedl syndrome.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 4, p. 420, doi. 10.1038/ejhg.2011.205
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- Publication type:
- Article
Calmodulin mutations and life-threatening cardiac arrhythmias: insights from the International Calmodulinopathy Registry.
- Published in:
- European Heart Journal, 2019, v. 40, n. 35, p. 2964, doi. 10.1093/eurheartj/ehz311
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- Publication type:
- Article
Association of Myocardial Muscle Non-Compaction and Multiple Ventricular Septal Defects by Echocardiography.
- Published in:
- Pediatric Cardiology, 2022, v. 43, n. 6, p. 1373, doi. 10.1007/s00246-022-02861-9
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- Publication type:
- Article
Pulmonary arteriovenous malformation with unexplained cyanosis as the first presentation of hereditary haemorrhagic telangiectasia, case report, and literature review.
- Published in:
- 2021
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- Publication type:
- Case Study
Improved method to determine succinylacetone in dried blood spots for diagnosis of tyrosinemia type 1 using UPLC-MS/MS.
- Published in:
- Biomedical Chromatography, 2008, v. 22, n. 11, p. 1181, doi. 10.1002/bmc.1049
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- Publication type:
- Article
Determination of methylmalonic acid in urine by HPLC with intramolecular excimer-forming fluorescence derivatization.
- Published in:
- Biomedical Chromatography, 2006, v. 20, n. 1, p. 54, doi. 10.1002/bmc.527
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- Publication type:
- Article
The Phenotype and Outcome of Infantile Cardiomyopathy Caused by a Homozygous ELAC2 Mutation.
- Published in:
- Cardiology, 2017, v. 137, n. 3, p. 188, doi. 10.1159/000465516
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- Publication type:
- Article
Chromosome 16p13.3 Contiguous Gene Deletion Syndrome including the SLX4, DNASE1, TRAP1, and CREBBP Genes Presenting as a Relatively Mild Rubinstein–Taybi Syndrome Phenotype: A Case Report of a Saudi Boy.
- Published in:
- Case Reports in Genetics, 2020, p. 1, doi. 10.1155/2020/6143050
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- Publication type:
- Article
The Phenotype of a CASQ2 Mutation in a Saudi Family with Catecholaminergic Polymorphic Ventricular Tachycardia.
- Published in:
- Pacing & Clinical Electrophysiology, 2013, v. 36, n. 5, p. e140, doi. 10.1111/j.1540-8159.2012.03434.x
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- Publication type:
- Article
Clinical variability and outcome of succinyl‐CoA:3‐ketoacid CoA transferase deficiency caused by a single OXCT1 mutation: Report of 17 cases.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
Identifying new genetic causes of pediatric cardiomyopathy by exome sequencing and zebrafish modeling.
- Published in:
- Cardiology in the Young, 2022, v. 32, p. S3
- By:
- Publication type:
- Article
A complex unit for a complex disease: the HCM-Family Unit.
- Published in:
- Monaldi Archives for Chest Disease, 2022, v. 92, n. 3, p. 1, doi. 10.4081/monaldi.2021.2147
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- 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
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- Publication type:
- Article
Determination of homocitrulline in urine of patients with HHH syndrome by liquid chromatography tandem mass spectrometry.
- Published in:
- Analytical & Bioanalytical Chemistry, 2006, v. 386, n. 7/8, p. 2013, doi. 10.1007/s00216-006-0831-5
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- Publication type:
- Article
Validation of Ion TorrentTM Inherited Disease Panel with the PGMTM Sequencing Platform for Rapid and Comprehensive Mutation Detection.
- Published in:
- Genes, 2018, v. 9, n. 5, p. 267, doi. 10.3390/genes9050267
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- Publication type:
- Article
Variable phenotype of a null PPP1R13L allele in children with dilated cardiomyopathy.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 1, p. 59, doi. 10.1002/ajmg.a.63402
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- 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
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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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- Publication type:
- Article
Exome sequencing identifies novel NTRK1 mutations in patients with HSAN-IV phenotype.
- Published in:
- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 4, p. 1009, doi. 10.1002/ajmg.a.38120
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- 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
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- Publication type:
- Article
A novel interstitial microdeletion of 7q22.1-7q22.3 detected by array comparative genomic hybridization.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 12, p. 3128, doi. 10.1002/ajmg.a.34298
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- 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
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- Publication type:
- Article
Profound Biotinidase Deficiency in a Child With Predominantly Spinal Cord Disease.
- Published in:
- Journal of Child Neurology, 2008, v. 23, n. 9, p. 1043, doi. 10.1177/0883073808318062
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- 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
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- Publication type:
- Article
A substitution mutation in cardiac ubiquitin ligase, FBXO32, is associated with an autosomal recessive form of dilated cardiomyopathy.
- Published in:
- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0267-5
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- 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
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- Publication type:
- Article
A novel mutation in TANGO2 gene associated with recurrent muscle weakness with rhabdomyolysis, metabolic encephalopathy and cardiac arrhythmia: a case report.
- Published in:
- Journal of Biochemical & Clinical Genetics, 2023, v. 6, n. 2, p. 138, doi. 10.24911/JBCGenetics/183-1690703389
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- Publication type:
- Article
Guidelines for acute management of hyperammonemia in the Middle East region.
- Published in:
- 2016
- By:
- Publication type:
- journal article