28 results on '"Schaaf, Christian P."'
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2. Patterns of co‐occurring birth defects in children with anotia and microtia
3. Analysis of the hypothalamic oxytocin system and oxytocin receptor‐expressing astrocytes in a mouse model of Prader–Willi syndrome
4. Phenotypic characterization of seven individuals with Marbach–Schaaf neurodevelopmental syndrome
5. Parental perceptions of genetic testing for children with autism spectrum disorders
6. Assigning evidence to actionability: An introduction to variant interpretation in precision cancer medicine
7. Genomic newborn screening: Proposal of a two‐stage approach
8. Patterns of congenital anomalies among individuals with trisomy 13 in Texas
9. Germline testing for homologous recombination repair genes—opportunities and challenges
10. Polysomnographic characteristics and sleep‐disordered breathing in Schaaf‐Yang syndrome
11. Birth defects that co‐occur with non‐syndromic gastroschisis and omphalocele
12. Phenotypic expansion ofBosch–Boonstra–Schaafoptic atrophy syndrome and further evidence for genotype–phenotype correlations
13. Co‐occurring defect analysis: A platform for analyzing birth defect co‐occurrence in registries
14. Schaaf-Yang syndrome overview: Report of 78 individuals
15. Schaaf-Yang syndrome overview: Report of 78 individuals
16. Clinical and molecular characterization of de novo loss of function variants in HNRNPU
17. The importance of phase analysis in multiexon copy number variation detected by aCGH in autosomal recessive disorder loci
18. Cover Image, Volume 37, Issue 1
19. Autism genetics - an overview
20. Corrigendum to “Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation”
21. Improvement of regressive autism symptoms in a child withTMLHEdeficiency following carnitine supplementation
22. Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literature
23. Identification of complex chromosome 18 rearrangements by FISH and array CGH in two patients with apparent isochromosome 18q
24. Autism and other neuropsychiatric symptoms are prevalent in individuals withMeCP2duplication syndrome
25. Hans Gunther and his disease
26. Novel interaction partners of the TPR/MET tyrosine kinase
27. Comparative analysis of gene and disease selection in genomic newborn screening studies.
28. Autism genetics - an overview.
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