Items where authors include "Robin, N.H."

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Number of items: 3.

Article

Niggl, E. orcid.org/0000-0002-5654-8425, Bouman, A., Briere, L.C. et al. (345 more authors) (2023) HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder. The American Journal of Human Genetics, 110 (8). pp. 1414-1435. ISSN 0002-9297

Zarate, Y.A., Smith-Hicks, C.L., Greene, C. et al. (55 more authors) (2018) Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome. American Journal of Medical Genetics Part A, 176 (4). pp. 925-935. ISSN 1552-4825

Proceedings Paper

Zarate, Y.A., Gambello, M., Pandya, A. et al. (19 more authors) (2018) Phenotype and natural history in 49 individuals with SATB2- associated syndrome. In: American Journal of Medical Genetics Part A. 38th Annual David W. Smith Workshop on Malformations and Morphogenesis, 26-29 Aug 2017, Stowe, VT. Wiley , pp. 1526-1527.

This list was generated on Sun Mar 24 15:24:41 2024 GMT.