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1. Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial disease

2. CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans

3. Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays

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

6. De Novo ZMYND8 variants result in an autosomal dominant neurodevelopmental disorder with cardiac malformations

7. Identification and functional evaluation of GRIA1 missense and truncation variants in individuals with ID: An emerging neurodevelopmental syndrome

8. Biallelic Variants in MNS1 Are Associated with Laterality Defects and Respiratory Involvement

9. Expanded phenotype of AARS1-related white matter disease

10. PIGG variant pathogenicity assessment reveals characteristic features within 19 families

12. BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms

13. A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct fromKabuki syndrome

16. Case Report: ISG15 deficiency caused by novel variants in two families and effective treatment with Janus kinase inhibition

18. WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome

19. BiallelicPKP2loss of function variants are associated with a lethal perinatal-onset biventricular dilated cardiomyopathy with excessive trabeculations and ventricular septal defects

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

21. Biallelic PKP2 loss of function variants are associated with a lethal perinatal-onset biventricular dilated cardiomyopathy with excessive trabeculations and ventricular septal defects.

22. Biallelic PKP2loss of function variants are associated with a lethal perinatal-onset biventricular dilated cardiomyopathy with excessive trabeculations and ventricular septal defects

23. AIP mutations in young patients with acromegaly and the Tampico Giant: the Mexican experience

24. Hereditary spastic paraparesis presenting as cerebral palsy due toADD3variant with mechanistic insight provided by a Drosophila γ‐adducin model

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

26. Identification and functional evaluation of GRIA1 missense and truncation variants in patients with intellectual disability: an emerging neurodevelopmental phenotype

28. De novo putative loss‐of‐function variants in TAF4 are associated with a neuro‐developmental disorder

29. Identification and functional evaluation of GRIA1 missense and truncation variants in individuals with ID:An emerging neurodevelopmental syndrome

30. De novo putative loss-of-function variants in TAF4 are associated with a neuro-developmental disorder

31. Heterozygous rare variants in NR2F2cause a recognizable multiple congenital anomaly syndrome with developmental delays

32. Biallelic alterations in PLXND1 cause common arterial trunk and other cardiac malformations in humans

33. Increased Population Risk of AIP‐Related Acromegaly and Gigantism in Ireland

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

36. Landscape of Familial Isolated and Young-Onset Pituitary Adenomas: Prospective Diagnosis in AIP Mutation Carriers

37. Heterogeneous Genetic Background of the Association of Pheochromocytoma/Paraganglioma and Pituitary Adenoma: Results From a Large Patient Cohort

38. Biallelic alterations in PLXND1 cause common arterial trunk and other cardiac malformations in humans.

39. Hereditary spastic paraparesis presenting as cerebral palsy due to ADD3 variant with mechanistic insight provided by a Drosophila γ‐adducin model.

40. Dominant and recessiveSLC12A2‐syndrome

41. De novo missense variants in FBXO11 alter its protein expression and subcellular localization

43. Additional file 1 of Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephaly

44. Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism

45. Mutations inHID1Cause Syndromic Infantile Encephalopathy and Hypopituitarism

46. Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene

47. Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism

49. AIP Mutation in Pituitary Adenomas in the 18th Century and Today

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