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1. Delineation of the adult phenotype of Coffin–Siris syndrome in 35 individuals

2. O’Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum

5. GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases

6. GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases

7. Delineation of the adult phenotype of Coffin–Siris syndrome in 35 individuals

9. The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

10. GestaltMatcher Database - A global reference for the facial phenotypic variability of rare human diseases

13. Disconnected Cardiac Autonomic Nerves in Genetic Ganglionic Acetylcholine Receptor Alpha-3 Subunit Deficiency

15. P196: GestaltMatcher Database: A FAIR database for medical imaging data of rare diseases

16. Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

22. O’Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum

23. Carrier testing for autosomal recessive disorders: a look at current practice in Germany

25. LRP4 mutations alter Wnt/[beta]-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome

30. Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2

31. Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2

32. Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2

33. Pharmacogenetic Testing, Informed Consent and the Problem of Secondary Information

36. Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2

39. A Mutation in the Signal Sequence of LRP5 in a Family With an Osteoporosis-Pseudoglioma Syndrome (OPPG)-Like Phenotype Indicates a Novel Disease Mechanism for Trinucleotide Repeats

40. Novel CCM1, CCM2, and CCM3 Mutations in Patients With Cerebral Cavernous Malformations: In-Frame Deletion in CCM2 Prevents Formation of a CCM1/CCM2/CCM3 Protein Complex

42. Liquid Biopsies

43. The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping

44. Which genes to assess in the NGS diagnostics of intellectual disability? The case for a consensus database-driven and expert-curated approach

45. Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta

46. Osteogenesis imperfecta: Pathophysiology and current treatment strategies

47. The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome

48. Das Verbot der pränatalen Diagnostik spätmanifestierender Erkrankungen im deutschen Gendiagnostikgesetz - eine Diskussion medizinischer und rechtlicher Aspekte und deren Implikation für die medizinethische Diskussion

50. Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta

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