195 results on '"Graham, John M."'
Search Results
2. An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome
3. Personal journeys to and in human genetics and dysmorphology.
4. De novo copy number variants and parental age: Is there an association?
5. Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling
6. Characterization of the prenatal renal phenotype associated with 17q12, HNF1B, microdeletions.
7. Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencing
8. GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function
9. Review of genetic and environmental factors leading to hypospadias
10. New genetic testing in prenatal diagnosis
11. Novel de novo SPOCK1 mutation in a proband with developmental delay, microcephaly and agenesis of corpus callosum
12. Social Function in Multiple X and Y Chromosome Disorders: XXY, XYY, XXYY, XXXY
13. Familial Bainbridge‐Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype.
14. Ovarian cysts on prenatal MRI
15. 2q23.1 microdeletion of the MBD5 gene in a female with seizures, developmental delay and distinct dysmorphic features
16. Clinical review of genetic epileptic encephalopathies
17. De novo microdeletion of Xp11.3 exclusively encompassing the monoamine oxidase A and B genes in a male infant with episodic hypotonia: A genomics approach to personalized medicine
18. GLUT1 deficiency syndrome as a cause of encephalopathy that includes cognitive disability, treatment-resistant infantile epilepsy and a complex movement disorder
19. Situs anomalies on prenatal MRI
20. The PRC’s Evolving Standards System : Institutions and Strategy
21. Further clinical delineation of microcephaly‐capillary malformation syndrome.
22. Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance
23. Clinical management of patients with ASXL1 mutations and Bohring–Opitz syndrome, emphasizing the need for Wilms tumor surveillance
24. The intellectual disabilities evaluation and advice system (IDEAS): Outcome of the first 55 cases
25. A syndrome of facial dysmorphism, cubital pterygium, short distal phalanges, swan neck deformity of fingers, and scoliosis
26. De novo exon 1 missense mutations of SKI and Shprintzen-Goldberg syndrome: Two new cases and a clinical review
27. Advances in Hirschsprung Disease Genetics and Treatment Strategies: An Update for the Primary Care Pediatrician
28. MED12 related disorders
29. Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation
30. Molecular and clinical analyses of Greig Cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations
31. Mutation Spectrum in RAB3 GAP1, RAB3 GAP2, and RAB18 and Genotype-Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome
32. Growth Retardation, Intellectual Disability, Facial Anomalies, Cataract, Thoracic Hypoplasia, and Skeletal Abnormalities: A Novel Phenotype
33. A standard of care for individuals with PIK3CA‐related disorders: An international expert consensus statement.
34. A locus for bilateral perisylvian polymicrogyria maps to Xq28. (Report)
35. Clubfeet and associated abnormalities on fetal magnetic resonance imaging†
36. Ichthyotic Skin Disorders in the Neonate
37. Blistering Skin Disorders in the Neonate
38. Male genital abnormalities in intrauterine growth restriction
39. MR imaging of the fetal musculoskeletal system
40. Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: Two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis
41. Genetics of common malformations
42. Abnormalities of the penis in utero – hypospadias on fetal MRI
43. Distinctive phenotype in 9 patients with deletion of chromosome 1q24-q25
44. Fetal akinesia and associated abnormalities on prenatal MRI
45. Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia
46. High-Resolution genomic arrays identify CNVs that phenocopy the chromosome 22q11.2 deletion syndrome
47. Cumming Syndrome: report of two additional cases
48. Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations
49. Social Function in Multiple X and Y Chromosome Disorders: XXY, XYY, XXYY, XXXY
50. Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms.
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