535 results on '"Tzschach, Andreas"'
Search Results
2. Aberrant phase separation and nucleolar dysfunction in rare genetic diseases
3. Obsessive–compulsive symptoms in ACTG1-associated Baraitser-Winter cerebrofrontofacial syndrome
4. ABRAXAS1 orchestrates BRCA1 activities to counter genome destabilizing repair pathways—lessons from breast cancer patients
5. GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases
6. Variants in CUL4B are Associated with Cerebral Malformations
7. Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP
8. Novel truncating PPM1D mutation in a patient with intellectual disability
9. Genetics of intellectual disability in consanguineous families
10. X-chromosomale Intelligenzminderung
11. Novel homozygous LAMB1 in‐frame deletion in a pediatric patient with brain anomalies and cerebrovascular event
12. Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects
13. Obsessive–compulsive symptoms and 15q11.2q13.1 duplication syndrome
14. Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype–phenotype correlation study
15. Obsessive-compulsive symptoms in two patients with chromosomal disorders involving the X chromosome
16. Obsessive-compulsive symptoms in two patients with chromosomal disorders involving the X chromosome.
17. Ready to clone: CNV detection and breakpoint fine-mapping in breast and ovarian cancer susceptibility genes by high-resolution array CGH
18. Adult‐Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERD ND): Time to Move Beyond the Skin
19. Pierpont syndrome: report of a new patient
20. Musculoskeletal Disease in MDA5‐Related Type I Interferonopathy: A Mendelian Mimic of Jaccoudʼs Arthropathy
21. Novel PRPS1 gain‐of‐function mutation in a patient with congenital hyperuricemia and facial anomalies
22. Skewed X‐inactivation in a family with DLG3‐associated X‐linked intellectual disability
23. Congenital CLN disease in two siblings
24. PIGN encephalopathy: Characterizing the epileptology
25. Mutation of the conserved polyadenosine RNA binding protein, ZC3H14/dNab2, impairs neural function in Drosophila and humans
26. Marfan Syndrome Caused by Disruption of the FBN1 Gene due to A Reciprocal Chromosome Translocation
27. The Importance of Extended Analysis Using Current Molecular Genetic Methods Based on the Example of a Cohort of 228 Patients with Hereditary Breast and Ovarian Cancer Syndrome
28. Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability
29. Interstitial 1p32.1p32.3 deletion in a patient with multiple congenital anomalies
30. Interstitial Duplication of Chromosome Region 1q25.1q25.3: Report of a Patient With Mild Cognitive Deficits, Tall Stature and Facial Dysmorphisms
31. Adult‐Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERDND): Time to Move Beyond the Skin.
32. Characterisation of de novo MAPK10/JNK3 truncation mutations associated with cognitive disorders in two unrelated patients
33. New Cav1.2 Channelopathy with High-Functioning Autism, Affective Disorder, Severe Dental Enamel Defects, a Short QT Interval, and a Novel CACNA1C Loss-of-Function Mutation
34. Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots
35. Brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome (OMIM 609945): case report and review of the literature
36. Cranioectodermal dysplasia, sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene
37. Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly
38. Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing
39. Deletions in 14q24.1q24.3 are associated with congenital heart defects, brachydactyly, and mild intellectual disability
40. De novo partial deletion in GRID2 presenting with complicated spastic paraplegia
41. Biallelic variants in PIGNcause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype–phenotype correlation study
42. Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-[beta]-binding protein, in nonsyndromic autosomal-recessive mental retardation
43. Transitioning the Molecular Tumor Board from Proof of Concept to Clinical Routine: A German Single-Center Analysis
44. A defect in the TUSC3 gene is associated with autosomal recessive mental retardation
45. Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardation
46. Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci
47. A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral–facial–digital type I syndrome
48. SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephaly
49. New Cav1.2 Channelopathy with High-Functioning Autism, Affective Disorder, Severe Dental Enamel Defects, a Short QT Interval, and a Novel CACNA1C Loss-of-Function Mutation
50. Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation
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