100 results on '"Stumpel, Constance T.R.M."'
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2. Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathway
3. Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy
4. Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes
5. Distinguishing Marshall from Stickler syndrome: a clinical and genetic challenge
6. The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder
7. Evaluation of the most commonly used (semi-)quantitative parameters of 18F-FDG PET/CT to detect malignant transformation of neurofibromas in neurofibromatosis type 1
8. Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy
9. The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 gene
10. P162. Altered Subcortical and Cortical Brain Morphology in Adult Women With 47,XXX: A 7-Tesla Magnetic Resonance Imaging Study
11. Behavioral phenotype in adults with Prader–Willi syndrome
12. Psychiatric illness in a cohort of adults with Prader-Willi syndrome
13. Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature
14. Meier–Gorlin Syndrome: Growth and Secondary Sexual Development of a Microcephalic Primordial Dwarfism Disorder
15. Aging in Prader–Willi Syndrome: Twelve Persons Over the Age of 50 Years†
16. Genotype–phenotype relationships as prognosticators in Rett syndrome should be handled with care in clinical practice
17. Physical health problems in adults with Prader-Willi syndrome
18. Distinguishing Marshall from Stickler syndrome: a clinical and genetic challenge
19. Orthopaedic Aspects of SAMS Syndrome
20. Shprintzen-Goldberg syndrome associated with a novel missense mutation in TGFBR2
21. The C20orf133 gene is disrupted in a patient with Kabuki syndrome
22. Haploinsufficiency of CUX1 Causes Nonsyndromic Global Developmental Delay With Possible Catch-up Development
23. Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome
24. The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome
25. De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies
26. Orthopaedic Aspects of SAMS Syndrome
27. Haploinsufficiency of CUX1 Causes Nonsyndromic Global Developmental Delay With Possible Catch-up Development
28. Haploinsufficiency of CUX1 Causes Nonsyndromic Global Developmental Delay With Possible Catch‐up Development
29. Growth Hormone Therapy in Children with Kabuki Syndrome: 1-year Treatment Results
30. De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype
31. Body proportions in children with Kabuki syndrome
32. The use of medical care and the prevalence of serious illness in an adult Prader–Willi syndrome cohort
33. De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype
34. The inflatable thymus herniation of the normal mediastinal thymus: A case report and review of the literature
35. Refining the Diagnosis of Congenital Nephrotic Syndrome on Long-term Stored Tissue: c.1097G>A (p.(Arg366His)) WT1 Mutation Causing Denys Drash Syndrome
36. Growth Hormone Stimulation Tests in Children with Kabuki Syndrome
37. Refining the Diagnosis of Congenital Nephrotic Syndrome on Long-term Stored Tissue: c.1097G>A (p.(Arg366His)) WT1 Mutation Causing Denys Drash Syndrome.
38. Dementia in a woman with Prader–Willi syndrome
39. Endochondral ossification in a case of progressive osseous heteroplasia in a young female child
40. SAMS, a Syndrome of Short Stature, Auditory-Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities Is a Unique Neurocristopathy Caused by Mutations in Goosecoid
41. Genotype-phenotype relationships as prognosticators in Rett syndrome should be handled with care in clinical practice
42. Microcephaly, unusual nose, cutaneous syndactyly, and mental retardation
43. REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31
44. Shprintzen‐Goldberg syndrome associated with a novel missense mutation in TGFBR2
45. Healthcare transition in persons with intellectual disabilities: General issues, the Maastricht model, and Prader–Willi syndrome
46. Neonatal Marfan syndrome: clinical report and review of the literature
47. Expressive language in children with Kabuki syndrome
48. Kabuki syndrome is not caused by an 8p duplication: A cytogenetic study in 20 patients
49. Auditory canal atresia, humeroscapular synostosis, and other skeletal abnormalities: Confirmation of the autosomal recessive “SAMS” syndrome
50. Expressive language in children with Kabuki syndrome
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