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 TitleAuthors / EditorsDate
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To aggregate or not to aggregate Neerman Arbez, Marguerite 2007
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The gene encoding the ketogenic enzyme HMGCS2 displays a unique expression during gonad development in mice Bagheri-Fam, Stefan; Chen, Huijun; Wilson, Sean; Ayers, Katie; ... Wilhelm, Dagmar 2020
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The effect of apolipoprotein polymorphism on brain in mild cognitive impairment: a voxel-based morphometric study Pennanen, Corina; Testa, Cristina; Boccardi, Marina; Laakso, Mikko P; ... Soininen, Hilkka 2006
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Specific BACE1 genotypes provide additional risk for late-onset Alzheimer disease in APOE epsilon 4 carriers Gold, Gabriel; Blouin, Jean-Louis; Herrmann, François; Michon, Agnès; ... Antonarakis, Stylianos 2003
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Severe bleeding and miscarriages in a hypofibrinogenemic woman heterozygous for the gamma Ala82Gly mutation Zdziarska, Joanna; Undas, Anetta; Basa, Joanna; Iwaniec, Teresa; ... Neerman Arbez, Marguerite 2009
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Report of the Fourth International Workshop on Human Chromosome 21 Delabar, J. M.; Creau, N.; Sinet, P. M.; Ritter, O.; ... Patterson, D. 1993
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Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practice Fokstuen, Siv; Munoz, Analia; Melacini, Paola; Iliceto, Sabino; ... Blouin, Jean-Louis 2011
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Preclinical effects of APOE ε4 on cerebrospinal fluid Aβ42 concentrations Lautner, Ronald; Insel, Philip S; Skillbäck, Tobias; Olsson, Bob; ... Zetterberg, Henrik 2017
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Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders Travaglini, Lorena; Brancati, Francesco; Silhavy, Jennifer; Iannicelli, Miriam; ... Gleeson, Joseph G 2013
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Patterns of gray matter atrophy in genetic frontotemporal dementia: results from the GENFI study Cash, David M; Bocchetta, Martina; Thomas, David L; Dick, Katrina M; ... Rohrer, Jonathan D 2018
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Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia Makrythanasis, Periklis; Kato, Mitsuhiro; Zaki, Maha S; Saitsu, Hirotomo; ... Murakami, Yoshiko 2016
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One case, 3 rare simultaneous findings: intramyocardial bronchogenic cyst, P.H558R variant of SCN5A gene, and granular cell tumor of the esophagus Shiferaw, Kebede; Lobrinus, Alexandre J.; Grabherr, Silke; Michaud, Katarzyna; ... Schrag, Bettina 2012
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Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected mother Lambert, Nelle; Dauve, Corinne; Ranza, Emmanuelle Nathalie; Makrythanasis, Periklis; ... Giacobino, Ariane 2018
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Novel homozygous, heterozygous and hemizygous FRMD7 gene mutations segregated in the same consanguineous family with congenital X-linked nystagmus Radhakrishna, Uppala; Ratnamala, Uppala; Deutsch Escalante, Samuel; Bartoloni Riotto, Lucia; ... Antonarakis, Stylianos 2012
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Mutation of the translation initiation codon in FGA causes congenital afibrinogenemia Tirefort, Yordanka; Alson, Olivat Rakoto; De Moerloose, Philippe; Neerman Arbez, Marguerite 2012
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Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature Sloan Bena, Frédérique; Bruno, Damien L; Eriksson, Mats; van Ravenswaaij-Arts, Conny; ... Schoumans, Jacqueline 2013
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Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus Jacquemont, Sébastien 2011
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MHC-linked control of murine SLE Ibnou-Zekri, Nabila; Vyse, T. J.; Rozzo, S. J.; Iwamoto, Masahiro; ... Izui, Shozo 1999
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MECP2 mutant allele in a boy with Rett syndrome and his unaffected heterozygous mother Dayer, Alexandre; Bottani, Armand; Bouchardy, Isabelle; Fluss, Joel Victor; ... Morris, Michael Andréw 2007
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Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy French Parkinson's Disease Genetics Study, International Parkinson's Disease Genomics Consortium 2016
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