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1. Neurological features and progression in a large cohort with xeroderma pigmentosum

2. The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome

3. Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

5. Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction

6. Growth charts in Cockayne syndrome type 1 and type 2

7. Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

8. Recessive MYH7-related myopathy in two families

9. Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

11. Arterial tortuosity syndrome: 40 new families and literature review

13. Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

14. RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes

15. Clinical and molecular consequences of disease-associated de novo mutations in SATB2

16. Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL)

17. A Distinct Genotype of XP Complementation Group A: Surprisingly Mild Phenotype Highly Prevalent in Northern India/Pakistan/Afghanistan

18. Mutations in the Gene PRRT2 Cause Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions

19. Whole-Exome-Sequencing Identifies Mutations in Histone Acetyltransferase Gene KAT6B in Individuals with the Say-Barber-Biesecker Variant of Ohdo Syndrome

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