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NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism.
Am J Hum Genet. 2020 Nov 5;107(5):963-976. doi: 10.1016/j.ajhg.2020.10.002.
Am J Hum Genet. 2020.
PMID: 33157009
Free PMC article.
[Polycystic ovary syndrome in obese or type 1 diabetic (T1D) adolescent girls].
Bouthors T, Elowe-Gruau É, Antoniou MC, Hryciuk J, Stoppa-Vaucher S, Ruiz Arana IL, Diserens C, Busiah K, Hauschild M.
Bouthors T, et al. Among authors: ruiz arana il.
Rev Med Suisse. 2020 Oct 14;16(710):1941-1944.
Rev Med Suisse. 2020.
PMID: 33058582
Review.
French.
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A novel hemizygous mutation of MAMLD1 in a patient with 46,XY complete gonadal dysgenesis.
Ruiz-Arana IL, Hübner A, Cetingdag C, Krude H, Grüters A, Fukami M, Biebermann H, Köhler B.
Ruiz-Arana IL, et al.
Sex Dev. 2015;9(2):80-5. doi: 10.1159/000371603. Epub 2015 Feb 3.
Sex Dev. 2015.
PMID: 25660412
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