Pascal and Francis Bibliographic Databases

Help

Search results

Your search

kw.\*:("Carácter dominante")

Filter

A-Z Z-A Frequency ↓ Frequency ↑
Export in CSV

Document Type [dt]

A-Z Z-A Frequency ↓ Frequency ↑
Export in CSV

Publication Year[py]

A-Z Z-A Frequency ↓ Frequency ↑
Export in CSV

Discipline (document) [di]

A-Z Z-A Frequency ↓ Frequency ↑
Export in CSV

Language

A-Z Z-A Frequency ↓ Frequency ↑
Export in CSV

Author Country

A-Z Z-A Frequency ↓ Frequency ↑
Export in CSV

Origin

A-Z Z-A Frequency ↓ Frequency ↑
Export in CSV

Results 1 to 25 of 2651

  • Page / 107

Export

Selection :

  • and

In-Frame Mutations in Exon 1 of SKI Cause Dominant Shprintzen-Goldberg SyndromeCARMIGNAC, Virginie; THEVENON, Julien; RENARD, Marjolijn et al.American journal of human genetics. 2012, Vol 91, Num 5, pp 950-957, issn 0002-9297, 8 p.Article

Osteogenesis imperfecta type IIA: evidence for dominant inheritanceYOUNG, I. D; THOMPSON, E. M; HALL, C. M et al.Journal of medical genetics. 1987, Vol 24, Num 7, pp 386-389, issn 0022-2593Article

R75Q Dominant Mutation in GJB2 Gene Silenced by the in Cis Recessive Mutation c.35delGLOSSA, Sandra; CHINETTI, Viviana; CORVINO, Virginia et al.American journal of medical genetics. Part A. 2010, Vol 152, Num 10, pp 2658-2660, issn 1552-4825, 3 p.Article

A new dominantly inherited pure cerebellar ataxia, SCA 30STOREY, E; BAHLO, M; FAHEY, M et al.Journal of neurology, neurosurgery and psychiatry. 2009, Vol 80, Num 4, pp 408-411, issn 0022-3050, 4 p.Article

A dominant mesomelic dysplasia associated with a 1.0-Mb microduplication of HOXD gene cluster at 2q31.1CHO, Tae-Joon; KIM, Ok-Hwa; IN HO CHOI et al.Journal of medical genetics. 2010, Vol 47, Num 9, pp 638-639, issn 0022-2593, 2 p.Article

α-Synuclein Gene Rearrangements in Dominantly Inherited Parkinsonism : Frequency, Phenotype, and MechanismsIBANEZ, Pablo; LESAGE; AGID, Yves et al.Archives of neurology (Chicago). 2009, Vol 66, Num 1, pp 102-108, issn 0003-9942, 7 p.Article

Dominant Mutations in RP1L1 Are Responsible for Occult Macular DystrophyAKAHORI, Masakazu; TSUNODA, Kazushige; ITABASHI, Takeshi et al.American journal of human genetics. 2010, Vol 87, Num 3, pp 424-429, issn 0002-9297, 6 p.Article

A common framework for understanding the origin of genetic dominance and evolutionary fates of gene duplicationsKONDRASHOV, Fyodor A; KOONIN, Eugene V.Trends in genetics (Regular ed.). 2004, Vol 20, Num 7, pp 287-291, issn 0168-9525, 5 p.Article

Temporal bone histopathology in dominantly inherited audiovestibular syndromeISHIYAMA, A; ISHIYAMA, G; LOPEZ, I et al.Neurology. 2004, Vol 63, Num 10, pp 1859-1862, issn 0028-3878, 4 p.Article

Prediction of additive and dominance effects in selected or unselected populations with inbreedingDE BOER, I. J. M; VAN ARENDONK, J. A. M.Theoretical and Applied Genetics. 1992, Vol 84, Num 3-4, pp 451-459, issn 0040-5752Article

Male transmission of Apert syndromeROLLNICK, B. R.Clinical genetics. 1988, Vol 33, Num 2, pp 87-90, issn 0009-9163Article

Dominant Mutation of CCDC78 in a Unique Congenital Myopathy with Prominent Internal Nuclei and Atypical CoresMAJCZENKO, Karen; DAVIDSON, Ann E; LI, Jun Z et al.American journal of human genetics. 2012, Vol 91, Num 2, pp 365-371, issn 0002-9297, 7 p.Article

Evidence for Autosomal Dominant Inheritance of Ablepharon―Macrostomia SyndromeROHENA, Luis; KUEHN, Devon; MARCHEGIANI, Shannon et al.American journal of medical genetics. Part A. 2011, Vol 155, Num 4, pp 850-854, issn 1552-4825, 5 p.Article

A novel mutation of COL2A1 resulting in dominantly inherited rhegmatogenous retinal detachmentRICHARDS, Allan J; MEREDITH, Sarah; POULSON, Arabella et al.Investigative ophthalmology & visual science. 2005, Vol 46, Num 2, pp 663-668, issn 0146-0404, 6 p.Article

Sample-size guidelines for linkage analysis of a dominant locus for a quantitative trait by the method of lod scoresBOEHNKE, M.American journal of human genetics. 1990, Vol 47, Num 2, pp 218-227, issn 0002-9297, 10 p.Article

Rapports et communications. II: Maladies dominantes à expressivité variable/13èmes Journées européennes de conseil génétique, Athènes, Grèce, 2-5 octobre 1987 = Reports and communications. II: Dominant disease with variable expressivity/13th european days of genetic counseling, Athens, Greece, 2-5 October 1987ROBERT, J. M.Journal de génétique humaine. 1988, Vol 26, Num 3, pp 141-274, issn 0021-7743Conference Proceedings

Dominantly inherited diabetes mellitus caused by GATA6 haploinsufficiency: variable intrafamilial presentationYORIFUJI, Tohru; KAWAKITA, Rie; HOSOKAWA, Yuki et al.Journal of medical genetics. 2012, Vol 49, Num 10, pp 642-643, issn 0022-2593, 2 p.Article

A dominant negative mutation of neuronal connexin 36 that blocks intercellular permeabilityPLACANTONAKIS, Dimitris; CICIRATA, Federico; WELSH, John P et al.Molecular brain research. 2002, Vol 98, Num 1-2, pp 15-28, issn 0169-328XArticle

Progressive bilateral nasal alar collapse : a dominantly inherited traitCOLE, H; BODURTHA, J; SALBERT, B. A et al.American journal of medical genetics. 1992, Vol 42, Num 1, pp 88-89, issn 0148-7299Article

Autosomal dominant inheritance of small kidneysKAPLAN, B. S; MILNER, L. S; JEQUIER, S et al.American journal of medical genetics. 1989, Vol 32, Num 1, pp 120-126, issn 0148-7299, 7 p.Article

SPTLC1 and RAB7 mutation analysis in dominantly inherited and idiopathic sensory neuropathiesKLEIN, C. J; WU, Y; KRUCKEBERG, K. E et al.Journal of neurology, neurosurgery and psychiatry. 2005, Vol 76, Num 7, pp 1022-1024, issn 0022-3050, 3 p.Article

Dominantly inherited syndromic blepharophimosisBIXLER, D.American journal of medical genetics. 1989, Vol 33, Num 4, issn 0148-7299, 551 [1 p.]Article

Autosomal dominant hypoparathyroidism with intracranial calcification outside the basal gangliaMCLEOD, D. R; HANLEY, D. A; MCARTHUR, R. G et al.American journal of medical genetics. 1989, Vol 32, Num 1, pp 32-35, issn 0148-7299, 4 p.Article

Variable expressivity of autosomal dominant microcornea with cataractSALMON, J. F; WALLIS, C. E; MURRAY, A. D. N et al.Archives of ophthalmology (1960). 1988, Vol 106, Num 4, pp 505-510, issn 0003-9950Article

Mate choice, monogamy and mutational loadMCLEAN, K. R; MANNING, J. T.Journal of theoretical biology. 1985, Vol 116, Num 3, pp 369-376, issn 0022-5193Article

  • Page / 107