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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Rare Diseases

Last data update: Nov 3, 2024. (Total: 233167Documents)
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Records 1 - 4 (of 4 Records)

Query Trace: Opitz G/bbb Syndrome[original query]
Duplication of the MID1 first exon in a patient with Opitz G/BBB syndrome.
Human genetics 2003 1 112 (3): 249-54.
Winter Jennifer, Lehmann Tanja, Suckow Vanessa, Kijas Zofia, Kulozik Andreas, Kalscheuer Vera, Hamel Ben, Devriendt Koen, Opitz John, Lenzner Steffen, Ropers Hans-Hilger, Schweiger Susa
Hypospadias associated with hypertelorism, the mildest phenotype of Opitz syndrome.
Journal of human genetics 2011 May 56 (5): 348-51.
Zhang Xufeng, Chen Yougen, Zhao Shentiang, Markljung Ellen, Nordenskjöld Agne
Targeted next?generation sequencing for research and diagnostics in congenital heart disease, and cleft lip and/or palate.
Molecular medicine reports 2019 Mar .
Bu Haisong, Liu Lin, Hu Shijun, Tan Zhiping, Zhao Tian
A Genetics-First Approach Revealed Monogenic Disorders in Patients With ARM and VACTERL Anomalies.
Frontiers in pediatrics 2020 7 8 310.
van de Putte Romy, Dworschak Gabriel C, Brosens Erwin, Reutter Heiko M, Marcelis Carlo L M, Acuna-Hidalgo Rocio, Kurtas Nehir E, Steehouwer Marloes, Dunwoodie Sally L, Schmiedeke Eberhard, Märzheuser Stefanie, Schwarzer Nicole, Brooks Alice S, de Klein Annelies, Sloots Cornelius E J, Tibboel Dick, Brisighelli Giulia, Morandi Anna, Bedeschi Maria F, Bates Michael D, Levitt Marc A, Peña Alberto, de Blaauw Ivo, Roeleveld Nel, Brunner Han G, van Rooij Iris A L M, Hoischen Alexand
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