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Clinical consequences of heterozygosity for autosomal-recessive diseasesVOGEL, F.Clinical genetics. 1984, Vol 25, Num 5, pp 381-415, issn 0009-9163Article

X-linked Ehlers-Danlos syndrome type V; the next generationBEIGHTON, P; CURTIN, D.Clinical genetics. 1985, Vol 27, Num 5, pp 472-478, issn 0009-9163Article

Critical consequences of finding three pathogenic mutations in an individual with recessive diseaseHALSALL, Sally; NICHOLAS, Adeline K; THORNTON, Gemma et al.Journal of medical genetics. 2010, Vol 47, Num 11, pp 769-770, issn 0022-2593, 2 p.Article

A NEW ALLELE OF OCULAR RETARDATION: EARLY DEVELOPMENT AND MORPHOGENETIC CELL DEATH.THEILER K; VARNUM DS; NADEAU JH et al.1976; ANAT. AND EMBRYOL.; GERM.; DA. 1976; VOL. 150; NO 1; PP. 85-97; BIBL. 16 REF.Article

RECESSIVELY INHERITED "PURE" SPASTIC PARAPLEGIA: CASE STUDYDE COO IFM; CABREELS FJM; RENIER WO et al.1982; CLINICAL NEUROLOGY AND NEUROSURGERY; ISSN 0303-8467; NLD; DA. 1982; VOL. 84; NO 4; PP. 247-253; BIBL. 18 REF.Article

Genetic analysis of ciliary pattern mutants in Paraurostyla weisseiJERKA-DZIADOSZ, M; MUSZYNSKA, K; FRONTCZAK, M et al.Acta protozoologica. 1989, Vol 28, Num 2, pp 93-110, issn 0065-1583, 18 p.Article

Ehlers-Danlos syndrome type IV D: an autosomal recessive disorderSULH, H. M. B; STEINMANN, B; RAO, V. H et al.Clinical genetics. 1984, Vol 25, Num 3, pp 278-287, issn 0009-9163Article

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

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

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

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

Tumor suppressors: recessive mutations that lead to cancerHANSEN, M. F; CAVENEE, W. K.Cell (Cambridge). 1988, Vol 53, Num 2, pp 172-173, issn 0092-8674Article

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

Dimerization of the human melanocortin 1 receptor : Functional consequences and dominant-negative effectsSANCHEZ-LAORDEN, Berta L; SANCHEZ-MAS, Jesus; MARTINEZ-ALONSO, Emma et al.Journal of investigative dermatology. 2005, Vol 126, Num 1, pp 172-181, issn 0022-202X, 10 p.Article

Carrier risk calculations for recessive diseases when not all the mutant alleles are detectableCURNOW, R. N.American journal of medical genetics. 1994, Vol 52, Num 1, pp 108-114, issn 0148-7299Article

Select Heterozygous Keap1 Mutations Have a Dominant-Negative Effect on Wild-Type Keap1 In VivoSUZUKI, Takafumi; MAHER, Jonathan; YAMAMOTO, Masayuki et al.Cancer research (Chicago, Ill.). 2011, Vol 71, Num 5, pp 1700-1709, issn 0008-5472, 10 p.Article

ANALYSE GENETIQUE DE L'EFFET DE BARRIERE CHEZ SACCHAROMYCESEGOROVA VN; GORDENIN DA; GRISHIN AV et al.1981; GENETIKA; ISSN 0016-6758; SUN; DA. 1981; VOL. 17; NO 4; PP. 628-636; ABS. ENG; BIBL. 12 REF.Article

BRIEF CLINICAL REPORT: HOLOPROSENCEPHALY AND ENDOCRINE DYSGENESIS IN BROTHERSBEGLEITER ML; HARRIS DJ.1980; AMER. J. MED. GENET.; USA; DA. 1980; VOL. 7; NO 3; PP. 315-318; BIBL. 12 REF.Article

CLINICAL DIFFERENTIATION OF RECESSIVE CONGENITAL HEREDITARY ENDOTHELIAL DYSTROPHY AND DOMINANT HEREDITARY ENDOTHELIAL DYSTROPHYJUDISCH GF; MAUMENEE IH.1978; AMER. J. OPHTHALMOL.; USA; DA. 1978; VOL. 85; NO 5 PART. 1; PP. 606-612; BIBL. 22 REF.Article

A QUICK METHOD FOR TESTING RECESSIVE LETHAL DAMAGE WITH A DIPLOID STRAIN OF ASPERGILLUS NIDULANSMORPURGO G; PUPPO S; GUALANDI G et al.1978; MUTATION RES.; NLD; DA. 1978; VOL. 54; NO 2; PP. 131-137; BIBL. 9 REF.Article

INBREEDING IN RECESSIVE DISEASES.TCHEN P; BOIS E; FEINGOLD J et al.1977; HUM. GENET.; GERM.; DA. 1977; VOL. 38; NO 2; PP. 163-167; BIBL. 21 REF.Article

A EUGENIC EFFECT OF MEDICAL CARE.HARTUNG J; ELLISON P.1977; SOC. BIOL.; U.S.A.; DA. 1977; VOL. 24; NO 3; PP. 192-199; BIBL. 37 REF.Article

A MUTANT FOR SPONTANEOUS ZEIZURES IN C57BL/10BG MICEMAXSON SC; FINE MD; GINSBURG BE et al.1983; EPILEPSIA; ISSN 0013-9580; NLD; DA. 1983; VOL. 24; NO 1; PP. 15-24; ABS. FRE/SPA/GER; BIBL. 2 P.Article

AUTOSOMAL RECESSIVE GENERALIZED MYOTONIASUN SF; STREIB EW.1983; MUSCLE AND NERVE; ISSN 0148-639X; USA; DA. 1983; VOL. 6; NO 2; PP. 143-148; BIBL. 21 REF.Article

X-LINKED RECESSIVE BULBOSPINAL NEURONOPATHY: A REPORT OF TEN CASESHARDING AE; THOMAS PK; BARAITSER M et al.1982; JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY; ISSN 0022-3050; GBR; DA. 1982; VOL. 45; NO 11; PP. 1012-1019; BIBL. 21 REF.Article

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