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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 - 2 (of 2 Records)

Query Trace: Meckel Syndrome[original query]
Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.
Human mutation 2007 May 28 (5): 523-4.
Khaddour Rana, Smith Ursula, Baala Lekbir, Martinovic Jéléna, Clavering Davina, Shaffiq Rizwana, Ozilou Catherine, Cullinane Andrew, Kyttälä Mira, Shalev Stavit, Audollent Sophie, d'Humières Camille, Kadhom Noman, Esculpavit Chantal, Viot Géraldine, Boone Claire, Oien Christine, Encha-Razavi Férechté, Batman Philip A, Bennett Christopher P, Woods C Geoffrey, Roume Joelle, Lyonnet Stanislas, Génin Emmanuelle, Le Merrer Martine, Munnich Arnold, Gubler Marie-Claire, Cox Phillip, Macdonald Fiona, Vekemans Michel, Johnson Colin A, Attié-Bitach Tania,
Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures.
Journal of medical genetics 2012 Feb 49 (2): 126-37.
Bachmann-Gagescu Ruxandra, Ishak Gisele E, Dempsey Jennifer C, Adkins Jonathan, O'Day Diana, Phelps Ian G, Gunay-Aygun Meral, Kline Antonie D, Szczaluba Krzysztof, Martorell Loreto, Alswaid Abdulrahman, Alrasheed Shatha, Pai Shashidhar, Izatt Louise, Ronan Anne, Parisi Melissa A, Mefford Heather, Glass Ian, Doherty D
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