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2. Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt

3. Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections

5. Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders

6. Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease

7. De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias

9. Body Composition and Metabolism in Adults With Molecularly Confirmed Silver-Russell Syndrome.

10. Biallelic mutations in SUPV3L1 cause an inherited neurodevelopmental disorder with variable leukodystrophy due to aberrant mitochondrial double stranded RNA processing

11. Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

12. The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders

15. Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene

16. A clinical scoring system for congenital contractural arachnodactyly

17. Expanding the allelic spectrum of ELOVL4‐related autosomal recessive neuro‐ichthyosis

19. Genomic imprinting and Silver-Russell syndrome : candidate genes on chromosome 7

22. HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients

23. jamaneurology_morton_2022_rv_220001_1646244188.29201.pdf

24. Resistance to thyroid hormone alpha: molecular, biochemical and physiological approach to diagnosis and therapy

25. Heterozygous mutations affecting the protein kinase domain of CDK13 cause a syndromic form of developmental delay and intellectual disability

26. Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing

27. Craniosynostosis, inner ear, and renal anomalies in a child with complete loss of SPRY1 (sprouty homolog 1) function.

28. Combined novel homozygous variants in both SGPL1 and STAT1 presenting with severe combined immune deficiency: case report and literature review.

31. Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension

32. Prevalence and architecture of de novo mutations in developmental disorders

33. EXPERT CONSENSUS DOCUMENT: Diagnosis and management of Silver-Russell syndrome: first international consensus statement

37. Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review

38. Height and body mass index in molecularly confirmed Silver–Russell syndrome and the long‐term effects of growth hormone treatment

42. Cerebro–costo–mandibular syndrome: Clinical, radiological, and genetic findings

44. Pathogenic NR2F1 variants cause a developmental ocular phenotype recapitulated in a mutant mouse model

45. Dominant and recessiveSLC12A2‐syndrome

48. Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

50. Mosaic structural variation in children with developmental disorders

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