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Publications by Fowzan S. Alkuraya
Author Correction: A Human Ciliopathy Reveals Essential Functions for NEK10 in Airway Mucociliary Clearance
Nature Medicine
Biochemistry
Medicine
Genetics
Molecular Biology
Lessons Learned From Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population
American Journal of Human Genetics
Genetics
Bi-Allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans
American Journal of Human Genetics
Genetics
Recessive Truncating Mutations in ALKBH8 Cause Intellectual Disability and Severe Impairment of Wobble Uridine Modification
American Journal of Human Genetics
Genetics
Bi-Allelic TMEM94 Truncating Variants Are Associated With Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism
American Journal of Human Genetics
Genetics
Lessons Learned From Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population
American Journal of Human Genetics
Genetics
Loss-Of-Function Mutations in UDP-Glucose 6-Dehydrogenase Cause Recessive Developmental Epileptic Encephalopathy
Nature Communications
Astronomy
Genetics
Molecular Biology
Biochemistry
Chemistry
Physics
Expanding the Clinical, Allelic, and Locus Heterogeneity of Retinal Dystrophies
Genetics in Medicine
Medicine
Genetics
Clinical Genomics Can Facilitate Countrywide Estimation of Autosomal Recessive Disease Burden
Genetics in Medicine
Medicine
Genetics
182. Characterization and AAV-Mediated Correction of Xeroderma Pigmentosum-Cockayne Syndrome (XP/CS)
Molecular Therapy
Molecular Medicine
Molecular Biology
Pharmacology
Medicine
Genetics
Drug Discovery
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