18 results on '"Eyaid, Wafaa"'
Search Results
2. Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy
3. Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort
4. What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations
5. Evaluation of long-term effectiveness of the use of carglumic acid in patients with propionic acidemia (PA) or methylmalonic acidemia (MMA): study protocol for a randomized controlled trial
6. X-linked ichthyosis associated with psychosis and behavioral abnormalities: a case report
7. Early onset of Fazio-Londe syndrome: the first case report from the Arabian Peninsula
8. Clinical exome sequencing: results from 2819 samples reflecting 1000 families
9. Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia
10. Clinical, biochemical, cellular and molecular characterization of mitochondrial DNA depletion syndrome due to novel mutations in the MPV17 gene
11. Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of 18 new cases
12. Mutations in PNKP cause microcephaly, seizures and defects in DNA repair
13. Erratum: Corrigendum: Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome
14. Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome
15. Novel human pathological mutations
16. Cranio-lenticulo-sutural dysplasia is caused by a SEC23A mutation leading to abnormal endoplasmic-reticulum-to-Golgi trafficking
17. Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome
18. A novel dysmorphic syndrome with open calvarial sutures and sutural cataracts maps to chromosome 14q13-q21
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