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Results 1 to 13 of 13

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Polymicrogyria, cerebellar vermis hypoplasia, severe facial dysmorphism and cleft palate : a new syndrome?MOSCA, Anne-Laure; LAURENT, Nicole; FAIVRE, Laurence et al.European journal of medical genetics. 2007, Vol 50, Num 1, pp 48-53, issn 1769-7212, 6 p.Article

Pontine Tegmental Cap Dysplasia: The Severe End of the Clinical SpectrumRAUSCHER, C; PORETTI, A; NEUHANN, T. M et al.Neuropediatrics. 2009, Vol 40, Num 1, pp 43-46, issn 0174-304X, 4 p.Article

Mitochondrial dysfunction in a patient with joubert syndromeMORAVA, E; DINOPOULOS, A; KROES, H. Y et al.Neuropediatrics. 2005, Vol 36, Num 3, pp 214-217, issn 0174-304X, 4 p.Article

Renal disease in Arima syndrome is nephronophthisis as in other Joubert-related cerebello-oculo-renal syndromesKUMADA, Satoko; HAYASHI, Masaharu; ARIMA, Kunimasa et al.American journal of medical genetics. 2004, Vol 131A, Num 1, pp 71-76, issn 0148-7299, 6 p.Article

Joubert syndrome (and related disorders) (OMIM 213300)PARISI, Melissa A; DOHERTY, Dan; CHANCE, Phillip F et al.European journal of human genetics. 2007, Vol 15, Num 5, pp 511-521, issn 1018-4813, 11 p.Article

Ophthalmological findings in Joubert syndromeSTURM, V; LEIBA, H; MENKE, M. N et al.Eye (London. 1987). 2010, Vol 24, Num 2, pp 222-225, issn 0950-222X, 4 p.Article

Genotypes and phenotypes of Joubert syndrome and related disordersVALENTE, Enza Maria; BRANCATI, Francesco; DALLAPICCOLA, Bruno et al.European journal of medical genetics. 2008, Vol 51, Num 1, pp 1-23, issn 1769-7212, 23 p.Article

A novel homeobox mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome associated with brain, ocular, and dental phenotypesIDREES, Faisal; BLOCH-ZUPAN, Agnes; FRASER, Scott et al.American journal of medical genetics. Part B, Neuropsychiatric genetics. 2006, Vol 141, Num 2, pp 184-191, issn 1552-4841, 8 p.Article

Cerebral, cerebellar, and colobomatous anomalies in three related males : Sex-linked inheritance in a newly recognized syndrome with features overlapping with joubert syndromeKROES, Hester Y; NIEVELSTEIN, Rutger-Jan A. J; BARTH, Peter G et al.American journal of medical genetics. 2005, Vol 135A, Num 3, pp 297-301, issn 0148-7299, 5 p.Article

A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolismMORAVA, Eva; WEVERS, Ron A; SYKUT-CEGIELSKA, Jolanta et al.Brain. 2010, Vol 133, pp 3210-3220, issn 0006-8950, 11 p., 11Article

Cerebellum-small brain but large confusion: A review of selected cerebellar malformations and disruptionsBOLTSHAUSER, Eugen.American journal of medical genetics. 2004, Vol 126A, Num 4, pp 376-385, issn 0148-7299, 10 p.Article

A 6.9 Mb 1qter deletion/4.4 Mb 18pter duplication in a boy with extreme microcephaly with simplified gyral pattern, vermis hypoplasia and corpus callosum agenesisANDRIEUX, Joris; CUVELLIER, Jean-Christophe; DUBAN-BEDU, Bénédicte et al.European journal of medical genetics. 2008, Vol 51, Num 1, pp 87-91, issn 1769-7212, 5 p.Article

Clinical and Molecular Features of Joubert syndrome and Related DisordersPARISI, Melissa A.American journal of medical genetics. Part C, Seminars in medical genetics. 2009, Vol 151, Num 4, pp 326-340, issn 1552-4868, 15 p.Article

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