Pages that link to "Q37741152"

The following pages link to Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE). (Q37741152):

Displaying 38 items.

• The possible threat of Zika virus in the Middle East (Q23303403) (← links)
• LINS, a modulator of the WNT signaling pathway, is involved in human cognition (Q24295228) (← links)
• Hyperekplexia, microcephaly and simplified gyral pattern caused by novel ASNS mutations, case report (Q27311640) (← links)
• Asparagine synthetase deficiency detected by whole exome sequencing causes congenital microcephaly, epileptic encephalopathy and psychomotor delay. (Q30366855) (← links)
• The molecular basis of autosomal recessive diseases among the Arabs and Druze in Israel (Q34138840) (← links)
• Clinical and molecular analysis of UAE fibrochondrogenesis patients expands the phenotype and reveals two COL11A1 homozygous null mutations. (Q34192116) (← links)
• amamutdb.no: A relational database for MAN2B1 allelic variants that compiles genotypes, clinical phenotypes, and biochemical and structural data of mutant MAN2B1 in α-mannosidosis (Q35575479) (← links)
• Harmonizing the interpretation of genetic variants across the world: the Malaysian experience (Q35936017) (← links)
• Identification of mutations underlying 20 inborn errors of metabolism in the United Arab Emirates population (Q35967003) (← links)
• Retinal Diseases Caused by Mutations in Genes Not Specifically Associated with the Clinical Diagnosis (Q36176309) (← links)
• Thalassemia in the United Arab Emirates: Why it can be prevented but not eradicated (Q36263885) (← links)
• A Novel Aberrant Splice Site Mutation in RAB23 Leads to an Eight Nucleotide Deletion in the mRNA and Is Responsible for Carpenter Syndrome in a Consanguineous Emirati Family (Q36600658) (← links)
• Mutation spectrum of Joubert syndrome and related disorders among Arabs (Q36671126) (← links)
• A novel de novo mutation in DYNC1H1 gene underlying malformation of cortical development and cataract (Q37005336) (← links)
• Whole exome sequencing diagnosis of inborn errors of metabolism and other disorders in United Arab Emirates (Q37080368) (← links)
• Mutation Spectrum and Birth Prevalence of Inborn Errors of Metabolism among Emiratis: A study from Tawam Hospital Metabolic Center, United Arab Emirates (Q37562767) (← links)
• Stüve-Wiedemann syndrome: LIFR and associated cytokines in clinical course and etiology (Q37716721) (← links)
• Stüve-Wiedemann syndrome and related bent bone dysplasias (Q37980884) (← links)
• Informed consent form challenges for genetic research in a developing Arab country with high risk for genetic disease (Q38250270) (← links)
• Genetic polymorphisms of cytochrome P450-1A2 (CYP1A2) among Emiratis (Q41908761) (← links)
• A novel whole exon deletion in WWOX gene causes early epilepsy, intellectual disability and optic atrophy (Q41929093) (← links)
• Ophthalmic genetics: Moving forward (Q42152558) (← links)
• KMD: Korean Mutation Database for genes related to diseases (Q42635772) (← links)
• Cerebellar ataxia, mental retardation and dysequilibrium syndrome 1 (CAMRQ1) caused by an unusual constellation of VLDLR mutation. (Q43507249) (← links)
• A progeroid syndrome with neonatal presentation and long survival maps to 19p13.3p13.2. (Q43707344) (← links)
• Reasons for adult referrals for genetic counseling at a genetics center in Izmir, Turkey: analysis of 8965 cases over an eleven-year period (Q44703143) (← links)
• Initiating a Human Variome Project Country Node. (Q45944306) (← links)
• Autosomal recessive primary microcephaly due to ASPM mutations: An update (Q47291136) (← links)
• Analysis of two Arab families reveals additional support for a DFNB2 nonsyndromic phenotype of MYO7A. (Q50356353) (← links)
• Novel mutations in ADAMTSL2 gene underlying geleophysic dysplasia in families from United Arab Emirates (Q50723440) (← links)
• Consanguineous marriages, pearls and perils: Geneva International Consanguinity Workshop Report (Q51709674) (← links)
• A recessive syndrome of intellectual disability, moderate overgrowth, and renal dysplasia predisposing to Wilms tumor is caused by a mutation in FIBP gene. (Q53100108) (← links)
• Neuropathies of Stüve-Wiedemann Syndrome due to mutations in leukemia inhibitory factor receptor (LIFR) gene (Q64047579) (← links)
• Beyond the panel: preconception screening in consanguineous couples using the TruSight One "clinical exome" (Q89368243) (← links)
• Physiology, Development, and Disease Modeling in the Drosophila Excretory System (Q89581842) (← links)
• The future of cystic fibrosis care: a global perspective (Q90387464) (← links)
• Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases (Q91825640) (← links)
• Utility of clinical exome sequencing in a complex Emirati pediatric cohort (Q94552921) (← links)