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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 3 (of 3 Records)

Query Trace: Intellectual Disability and MED13L[original query]
De novo mutations in moderate or severe intellectual disability.
PLoS genetics 2014 Oct 10 (10): e1004772.
Hamdan Fadi F, Srour Myriam, Capo-Chichi Jose-Mario, Daoud Hussein, Nassif Christina, Patry Lysanne, Massicotte Christine, Ambalavanan Amirthagowri, Spiegelman Dan, Diallo Ousmane, Henrion Edouard, Dionne-Laporte Alexandre, Fougerat Anne, Pshezhetsky Alexey V, Venkateswaran Sunita, Rouleau Guy A, Michaud Jacques
MED13L loss-of-function variants in two patients with syndromic Pierre Robin sequence.
American journal of medical genetics. Part A 2017 11 176 (1): 181-186.
Gordon Christopher T, Chopra Maya, Oufadem Myriam, Alibeu Olivier, Bras Marc, Boddaert Nathalie, Bole-Feysot Christine, Nitschké Patrick, Abadie Véronique, Lyonnet Stanislas, Amiel Jean
Genetic investigation of syndromic forms of obesity.
International journal of obesity (2005) 2022 May .
Carvalho Laura Machado Lara, D'Angelo Carla Sustek, Villela Darine, da Costa Silvia Souza, de Lima Jorge Alexander Augusto, da Silva Israel Tojal, de Oliveira Scliar Marília, Chaves Luiza Dias, Krepischi Ana Cristina Victorino, Koiffmann Celia Priszkulnik, Rosenberg Car
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