Human Genome Epidemiology Literature Finder
Records 1 - 9 (of 9 Records) |
Query Trace: Syndrome and TMEM67[original query] |
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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, |
Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. Journal of medical genetics 2011 Feb 48 (2): 105-16. Otto Edgar A, Ramaswami Gokul, Janssen Sabine, Chaki Moumita, Allen Susan J, Zhou Weibin, Airik Rannar, Hurd Toby W, Ghosh Amiya K, Wolf Matthias T, Hoppe Bernd, Neuhaus Thomas J, Bockenhauer Detlef, Milford David V, Soliman Neveen A, Antignac Corinne, Saunier Sophie, Johnson Colin A, Hildebrandt Friedhelm, |
Joubert syndrome: genotyping a Northern European patient cohort. European journal of human genetics : EJHG 2015 Apr . Kroes Hester Y, Monroe Glen R, van der Zwaag Bert, Duran Karen J, de Kovel Carolien G, van Roosmalen Mark J, Harakalova Magdalena, Nijman Ies J, Kloosterman Wigard P, Giles Rachel H, Knoers Nine Vam, van Haaften Gi |
Characteristics of Liver Disease in 100 Individuals With Joubert Syndrome Prospectively Evaluated at a Single Center. Journal of pediatric gastroenterology and nutrition 2017 11 66 (3): 428-435. Strongin Anna, Heller Theo, Doherty Dan, Glass Ian A, Parisi Melissa A, Bryant Joy, Choyke Peter, Turkbey Baris, Daryanani Kailash, Yildirimli Deniz, Vemulapalli Meghana, Mullikin Jim C, Malicdan May C, Vilboux Thierry, Gahl William A, Gunay-Aygun Meral, |
Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly. Journal of medical genetics 2017 11 55 (3): 189-197. Y?ld?z Bölükba?? Esra, Mumtaz Sara, Afzal Muhammad, Woehlbier Ute, Malik Sajid, Tolun Asl?h |
Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Jan . Vilboux Thierry, Doherty Daniel A, Glass Ian A, Parisi Melissa A, Phelps Ian G, Cullinane Andrew R, Zein Wadih, Brooks Brian P, Heller Theo, Soldatos Ariane, Oden Neal L, Yildirimli Deniz, Vemulapalli Meghana, Mullikin James C, Nisc Comparative Sequencing Program , Malicdan May Christine V, Gahl William A, Gunay-Aygun Mer |
Missense variants in TMEM67 in a patient with Joubert syndrome. Clinical case reports 2018 11 6 (11): 2189-2192. Huynh Julie M, Galindo Maureen, Laukaitis Christina |
[Genetic analysis of novel MKKS variants in a Chinese patient with Bardet-Biedl syndrome]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2022 Jul 39 (7): 754-758. Li Hao, Hu Zhangx |
The genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued. Orphanet journal of rare diseases 2023 5 18 (1): 101. Simone Schröder, Gökhan Yigit, Yun Li, Janine Altmüller, Hans-Martin Büttel, Barbara Fiedler, Christoph Kretzschmar, Peter Nürnberg, Jürgen Seeger, Valentina Serpieri, Enza Maria Valente, Bernd Wollnik, Eugen Boltshauser, Knut Brockma |
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