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evgen study[Corporate Author]
(5 results)?
SETD1B-associated neurodevelopmental disorder.
J Med Genet. 2021 Mar;58(3):196-204. doi: 10.1136/jmedgenet-2019-106756. Epub 2020 Jun 16.
J Med Genet. 2021.
PMID: 32546566
Clinical, neuroradiological, and biochemical features of SLC35A2-CDG patients.
Vals MA, Ashikov A, Ilves P, Loorits D, Zeng Q, Barone R, Huijben K, Sykut-Cegielska J, Diogo L, Elias AF, Greenwood RS, Grunewald S, van Hasselt PM, van de Kamp JM, Mancini G, Okninska A, Pajusalu S, Rudd PM, Rustad CF, Salvarinova R, de Vries BBA, Wolf NI; EPGEN Study; Ng BG, Freeze HH, Lefeber DJ, Õunap K.
Vals MA, et al.
J Inherit Metab Dis. 2019 May;42(3):553-564. doi: 10.1002/jimd.12055. Epub 2019 Feb 11.
J Inherit Metab Dis. 2019.
PMID: 30746764
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Two Patients With KCNT1-Related Epilepsy Responding to Phenobarbital and Potassium Bromide.
Datta AN, Michoulas A, Guella I; EPGEN Study; Demos M.
Datta AN, et al.
J Child Neurol. 2019 Oct;34(12):728-734. doi: 10.1177/0883073819854853. Epub 2019 Jun 17.
J Child Neurol. 2019.
PMID: 31208268
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Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy.
Lehman A, Thouta S, Mancini GMS, Naidu S, van Slegtenhorst M, McWalter K, Person R, Mwenifumbo J, Salvarinova R; CAUSES Study; EPGEN Study; Guella I, McKenzie MB, Datta A, Connolly MB, Kalkhoran SM, Poburko D, Friedman JM, Farrer MJ, Demos M, Desai S, Claydon T.
Lehman A, et al.
Am J Hum Genet. 2017 Jul 6;101(1):65-74. doi: 10.1016/j.ajhg.2017.05.016. Epub 2017 Jun 29.
Am J Hum Genet. 2017.
PMID: 28669405
Free PMC article.
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