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Your search keyword '"CENTOGENE AG"' showing total 9 results

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9 results on '"CENTOGENE AG"'

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1. Adding evidence to the role of NEUROG1 in congenital cranial dysinnervation disorders.

2. ASAH1-related disorders: Description of 15 novel pediatric patients and expansion of the clinical phenotype.

3. ADAMTS19-associated heart valve defects: Novel genetic variants consolidating a recognizable cardiac phenotype.

4. VPS26C homozygous nonsense variant in two cousins with neurodevelopmental deficits, growth failure, skeletal abnormalities, and distinctive facial features.

5. A homozygous frameshift variant in an alternatively spliced exon of DLG5 causes hydrocephalus and renal dysplasia.

6. Clinical, biomarker and genetic spectrum of Niemann-Pick type C in Egypt: The detection of nine novel NPC1 mutations.

7. A founder nonsense variant in NUDT2 causes a recessive neurodevelopmental disorder in Saudi Arab children.

8. Expanding the clinical and genetic spectra of NKX6-2-related disorder.

9. A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy.

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