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1. USP27X variants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms

2. USP27X variants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms

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3. USP27Xvariants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms

4. PIGN encephalopathy: Characterizing the epileptology

5. Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants

6. De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females

7. De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder

8. Different mutations in DEAF1 lead to clinically distinct dominant and recessive forms of intellectual disability

9. Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

10. Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission

11. PRRT2-related phenotypes in patients with a 16p11.2 deletion

12. PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature

13. Functional analysis of a hypomorphic allele shows that MMP14 catalytic activity is the prime determinant of the Winchester syndrome phenotype

14. De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder

15. Variation in a range of mTOR-related genes associates with intracranial volume and intellectual disability

23. Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder.

24. PSMD11 loss-of-function variants correlate with a neurobehavioral phenotype, obesity, and increased interferon response.

25. De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features.

26. USP27X variants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms.

27. Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.

28. De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood.

29. The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.

30. Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study.

31. Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities.

32. Monoallelic CRMP1 gene variants cause neurodevelopmental disorder.

33. Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy.

34. Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X.

35. Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.

36. Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.

37. Human KCNQ5 de novo mutations underlie epilepsy and intellectual disability.

38. De novo variants in ATP2B1 lead to neurodevelopmental delay.

39. PIGN encephalopathy: Characterizing the epileptology.

41. Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice.

42. Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders.

43. De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females.

44. SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females.

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

46. Distinguishing Marshall from Stickler syndrome: a clinical and genetic challenge.

47. De novo variants in MPP5 cause global developmental delay and behavioral changes.

48. Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients.

49. Germline AGO2 mutations impair RNA interference and human neurological development.

50. The adult phenotype of Schaaf-Yang syndrome.