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Results 1 to 25 of 3697

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Autosomal recessive inheritance : An updated reviewMENSINK, Kara A; HAND, Jennifer L.Pediatric dermatology. 2006, Vol 23, Num 4, pp 404-409, issn 0736-8046, 6 p.Article

Hérédité monofactorielle : construction et interprétation d'un arbre généalogique principes du conseil génétique = Monofactorial heredityEYDOUX, P.La Revue du praticien (Paris). 1991, Vol 41, Num 25, pp 2645-2653, issn 0035-2640Article

Autosomal dominant growth hormone deficiency disrupts secretory vesicles in vitro and in vivo in transgenic miceMCGUINNESS, Lindsay; MAGOULAS, Charalambos; SESAY, Abdul K et al.Endocrinology (Philadelphia). 2003, Vol 144, Num 2, pp 720-731, issn 0013-7227, 12 p.Article

Disturbances in endocannabinoid metabolism causes autosomal recessive neurodegenerationMETZLER, M.Clinical genetics. 2011, Vol 79, Num 3, pp 221-222, issn 0009-9163, 2 p.Article

Peripapillary Retinal Nerve Fiber Layer Thinning in Patients with Autosomal Recessive Cone-Rod DystrophyPASADHIKA, Sirichai; FISHMAN, Gerald A; ALLIKMETS, Rando et al.American journal of ophthalmology. 2009, Vol 148, Num 2, pp 260-265, issn 0002-9394, 6 p.Article

Evidence for autosomal recessive inheritance of progeria (Hutchinson Gilford)TREVAS MACIEL, A.American journal of medical genetics. 1988, Vol 31, Num 3, pp 483-487, 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

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

Autosomal inheritance of sideroblastic anaemiaAMOS, R. J; MILLER, A. L. C; AMESS, J. A. L et al.Clinical and laboratory haematology. 1988, Vol 10, Num 3, pp 347-353, issn 0141-9854Article

Autosomal recessive inheritance of Nager acrofacial dysostosisCHEMKE, J; MOGILNER, B. M; BEN-ITZHAK, I et al.Journal of medical genetics. 1988, Vol 25, Num 4, pp 230-232, issn 0022-2593Article

Inheritance of trunk coloration in the three-spot gourami, Trichogaster trichopterus PallasFRANKEL, J. S.Journal of fish biology. 1992, Vol 41, Num 4, pp 663-665, issn 0022-1112Article

Mutations in EXPH5 result in autosomal recessive inherited skin fragilityLIU, L; MELLERIO, J. E; MARTINEZ, A. E et al.British journal of dermatology (1951). 2014, Vol 170, Num 1, pp 196-199, issn 0007-0963, 4 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

Autosomal dominant precalcaneal congenital fibrolipomatous hamartomaMEYER, Peter; SOENNICHSEN, Karsten; BUCHENAU, Wolfgang et al.Pediatric dermatology. 2005, Vol 22, Num 4, pp 355-356, issn 0736-8046, 2 p.Article

Hypercoagulability in a patient with Marfan syndromeHUMPHRIES, J. E; STOUFFER, G. A; KELLY, T. E et al.Journal of medical genetics. 1991, Vol 28, Num 5, pp 349-351, issn 0022-2593Article

PAPSS2 mutations cause autosomal recessive brachyolmiaMIYAKE, Noriko; ELCIOGLU, Nursel H; NAGAI, Toshiro et al.Journal of medical genetics. 2012, Vol 49, Num 8, pp 533-538, issn 0022-2593, 6 p.Article

Implication du récepteur P2Y5 et de son ligand LPA dans l'hypotrichose simplex et le syndrome des cheveux laineux autosomique récessif = Involvement of receptor P2Y5 and its ligand LPA in hypotrichosis simplex and autosomal recessive wooly hair syndromeDEREURE, O.Annales de dermatologie et de vénéréologie. 2008, Vol 135, Num 11, pp 794-795, issn 0151-9638, 2 p.Article

Mutations in KCNJ13 Cause Autosomal-Dominant Snowflake Vitreoretinal DegenerationFIELDING HEJTMANCIK, J; XIAODONG JIAO; ANREN LI et al.American journal of human genetics. 2008, Vol 82, Num 1, pp 174-180, issn 0002-9297, 7 p.Article

A family with an autosomal dominant mesomelic dysplasia resembling mesomelic dysplasia savarirayan and nievergelt typesNAKAMURA, Mihoko; MATSUDA, Yukihisa; HIGO, Masaru et al.American journal of medical genetics. Part A. 2007, Vol 143, Num 17, pp 2079-2081, issn 1552-4825, 3 p.Article

Autosomal dominant inherence of multiple supernumerary teethWANG, X.-X; ZHANG, J; WEI, F.-C et al.International journal of oral and maxillofacial surgery. 2007, Vol 36, Num 8, pp 756-758, issn 0901-5027, 3 p.Article

Homozygosity haplotype allows a genomewide search for the autosomal segments shared among patientsMIYAZAWA, Hitoshi; KATO, Masaaki; HAGIWARA, Koichi et al.American journal of human genetics. 2007, Vol 80, Num 6, pp 1090-1102, issn 0002-9297, 13 p.Article

Autosomal-dominant calcium ATPase disordersSZIGETI, Réka; KELLERMAYER, Richard.Journal of investigative dermatology. 2006, Vol 126, Num 11, pp 2370-2376, issn 0022-202X, 7 p.Article

Autosomal dominant resistance to thyrotropin as a distinct entity in five multigenerational kindreds : Clinical characterization and exclusion of candidate lociGRASBERGER, Helmut; MIMOUNI-BLOCH, Aviva; VAN SANDE, Jacqueline et al.The Journal of clinical endocrinology and metabolism. 2005, Vol 90, Num 7, pp 4025-4034, issn 0021-972X, 10 p.Article

Protein S deficiency : A database of mutations : For the Plasma Coagulation Inhibitors Subcommittee of the Scientific and Standardization Committee of the International Society on Thrombosis and HaemostasisGANDRILLE, S; BORGEL, D; FORMSTONE, C et al.Thrombosis and haemostasis. 1997, Vol 77, Num 6, pp 1201-1214, issn 0340-6245Article

Continual skin peeling syndromeMATHUR, D. K; BHARGAVA, P; SINGH, P et al.Indian Journal of Dermatology Venereology and Leprology. 1996, Vol 62, Num 2, pp 114-115, issn 0378-6323Article

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