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Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients Wattenhofer, Marie; Di Iorio, M. V.; Rabionet, Raquel; Dougherty, Loretta; ... Antonarakis, Stylianos 2002
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Language skills in children with velocardiofacial syndrome (deletion 22q11.2) Glaser, Bronwyn; Mumme, D. L.; Blasey, Christine; Morris, Michael Andréw; ... Eliez, Stéphan 2002
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Chronic administration of neuropeptide Y into the lateral ventricle of C57BL/6J male mice produces an obesity syndrome including hyperphagia, hyperleptinemia, insulin resistance, and hypogonadism Raposinho, PD; Pierroz, DD; Broqua, Pierre; White, R B; ... Aubert, Michel 2001
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Familial frontotemporal dementia with ubiquitin inclusion bodies and without motor neuron disease Kovari, Eniko Veronika; Leuba, G; Savioz, Armand; Saini, Krishan; ... Bouras, Constantin 2000
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Young children with Velo-Cardio-Facial syndrome (CATCH-22). Psychological and language phenotypes Eliez, Stéphan; Palacio-Espasa, Francisco; Spira, A.; Lacroix, M.; ... Cramer, B. 2000
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MEHMO, a novel syndrome: assignment of disease locus to Xp21.1-p22.13. Mental retardation, epileptic seizures, hypogonadism and genitalism, microcephaly, obesity DeLozier-Blanchet, C; Haenggeli, Charles-Antoine; Bottani, Armand 1999
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The phenotypic spectrum of GLI3 morphopathies includes autosomal dominant preaxial polydactyly type-IV and postaxial polydactyly type-A/B; No phenotype prediction from the position of GLI3 mutations Radhakrishna, U.; Bornholdt, D.; Scott, Hamish Steele; Patel, U. C.; ... Antonarakis, Stylianos 1999
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Sniffing behaviour, or recognizing a lily by smell, but not recognizing a sock on sight Vuilleumier, Patrik; Staub, F.; Assal, G. 1997
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Immunochemical characterization of a novel mitochondrially located protein encoded by a nuclear gene within the DFNB8/10 critical region on 21q22.3 Krohn, K.; Ovod, V.; Vilja, P.; Heino, M.; ... Peterson, P. 1997
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Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy, genetic homogeneity, and mapping of the locus within a 2-cM interval Ducros, A; Nagy, T; Alamowitch, S; Nibbio, A; ... Tournier-Lasserve, E 1996
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A gene which causes severe ocular alterations and occipital encephalocele (Knobloch syndrome) is mapped to 21q22.3 Sertie, A. L.; Quimby, M.; Moreira, E. S.; Murray, J.; ... Passos-Bueno, M. R. 1996
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The Yaa gene-mediated acceleration of murine lupus: Yaa- T cells from non-autoimmune mice collaborate with Yaa+ B cells to produce lupus autoantibodies in vivo Fossati-Jimack, Liliane; Sobel, E. S.; Iwamoto, Masahiro; Cohen, P. L.; ... Izui, Shozo 1995
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Psychotic illness in patients diagnosed with velo-cardio-facial syndrome and their relatives Pulver, A. E.; Nestadt, G.; Goldberg, R.; Shprintzen, R. J.; ... Housman, D. 1994
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An MRL/MpJ-lpr/lpr substrain with a limited expansion of lpr double-negative T cells and a reduced autoimmune syndrome Fossati-Jimack, Liliane; Takahashi, Satoru; Merino, Ramon; Iwamoto, Masahiro; ... Izui, Shozo 1993
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Selective pathogenicity of murine rheumatoid factors of the cryoprecipitable IgG3 subclass Berney, Thierry; Fulpius, Thierry; Shibata, T.; Reininger, Luc; ... Izui, Shozo 1992
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Autoimmune syndrome after induction of neonatal tolerance to alloantigens. CD4+ T cells from the tolerant host activate autoreactive F1 B cells Merino, Jesus; Schurmans, Stephane; Duchosal, M. A.; Izui, Shozo; Lambert, Paul Henri 1989
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Septicémie à anaérobes après infections oropharyngées (septicémie post-angine de Lemierre): un syndrome oublié Hirschel, Bernard; Allaz, Anne-Françoise; Siegrist, Claire-Anne 1983
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