| | Title | Authors / Editors | Date |
|
unige:8925 |
To aggregate or not to aggregate |
Neerman Arbez, Marguerite |
2007 |
|
unige:139078 |
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 |
|
unige:114075 |
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 |
|
unige:8759 |
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 |
|
unige:5480 |
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 |
|
unige:154959 |
SCN8A heterozygous variants are associated with anoxic-epileptic seizures |
Ranza, Emmanuelle Nathalie; Z'Graggen, Werner; Lidgren, Mathias; Beghetti, Maurice; ... Korff, Christian |
2020 |
|
unige:9164 |
Report of the Fourth International Workshop on Human Chromosome 21 |
Delabar, J. M.; Creau, N.; Sinet, P. M.; Ritter, O.; ... Patterson, D. |
1993 |
|
unige:34666 |
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 |
|
unige:111281 |
Preclinical effects of APOE ε4 on cerebrospinal fluid Aβ42 concentrations |
Lautner, Ronald; Insel, Philip S; Skillbäck, Tobias; Olsson, Bob; ... Zetterberg, Henrik |
2017 |
|
unige:43412 |
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 |
|
unige:111283 |
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 |
|
unige:88999 |
Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia |
Makrythanasis, Periklis; Kato, Mitsuhiro; Zaki, Maha S; Saitsu, Hirotomo; ... Murakami, Yoshiko |
2016 |
|
unige:112095 |
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 |
|
unige:123733 |
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 |
|
unige:34648 |
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 |
|
unige:32312 |
Mutation of the translation initiation codon in FGA causes congenital afibrinogenemia |
Tirefort, Yordanka; Alson, Olivat Rakoto; De Moerloose, Philippe; Neerman Arbez, Marguerite |
2012 |
|
unige:34630 |
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 |
|
unige:34657 |
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus |
Jacquemont, Sébastien |
2011 |
|
unige:10914 |
MHC-linked control of murine SLE |
Ibnou-Zekri, Nabila; Vyse, T. J.; Rozzo, S. J.; Iwamoto, Masahiro; ... Izui, Shozo |
1999 |
|
unige:8702 |
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 |
Heterozygote
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