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ANTENATAL DEVELOPMENT OF AMYLASE ISOENZYMES = DEVELOPPEMENT ANTENATAL DES ISOENZYMES DE L'AMYLASELAXOVA R.1972; J. MED. GENET.; G.B.; DA. 1972; VOL. 9; NO 3; PP. 321-323; BIBL. 6 REF.Serial Issue

Testing for cancer susceptibility genes in childrenLAXOVA, R.Advances in pediatrics. 1999, Vol 46, pp 1-40, issn 0065-3101Article

BRIEF CLINICAL REPORT: NEW, AUTOSOMAL DOMINANT FORM OF ECTODERMAL DYSPLASIATUFFLI GA; LAXOVA R.1983; AMERICAN JOURNAL OF MEDICAL GENETICS; ISSN 0148-7299; USA; DA. 1983; VOL. 14; NO 2; PP. 381-384; BIBL. 2 REF.Article

A FURTHER EXAMPLE OF A LETHAL AUTOSOMAL RECESSIVE CONDITION IN SIBS = UNE NOUVEL EXEMPLE D'UN ETAT RECESSIF AUTOSOMIQUE LETAL DANS UNE FRATRIELAXOVA R; OHARA PT; TIMOTHY JAD et al.1972; J. MENTAL DEFIC. RES.; G.B.; DA. 1972; VOL. 16; NO 2; PP. 139-143; BIBL. 2 REF.Serial Issue

A CLINICAL SERVICE FOR PRENATAL DIAGNOSIS. = UN SERVICE CLINIQUE POUR LE DIAGNOSTIC PRENATALLAXOVA R; LEWIS BV; SUDDABY M et al.1975; LANCET; G.B.; DA. 1975; NO 7942; PP. 964-966; BIBL. 12 REF.Article

MENKES' SYNDROME WITH VASCULAR AND ADRENERGIC NERVE ABNORMALITIESUNO H; ARYA S; LAXOVA R et al.1983; ARCHIVES OF PATHOLOGY AND LABORATORY MEDICINE; ISSN 0096-8528; USA; DA. 1983; VOL. 107; NO 6; PP. 286-289; BIBL. 23 REF.Article

IDIOPATHIC HYDROPS FETALIS REPORT OF 4 PATIENTS INCLUDING 2 AFFECTED SIBSSCHWARTZ SM; VISESKUL C; LAXOVA R et al.1981; AM. J. MED. GENET.; ISSN 0148-7299; USA; DA. 1981; VOL. 8; NO 1; PP. 59-66; BIBL. 14 REF.Article

FAMILY WITH PROBABLE ACHONDROGENESIS AND LIPID INCLUSIONS IN FIBROBLASTS = ACHONDROGENESE PROBABLE ET INCLUSIONS LIPIDIQUES DANS LES FIBROBLASTES DANS UNE FAMILLELAXOVA R; OHARA PT; RIDLER MAC et al.1973; ARCH. DIS. CHILDH.; G.B.; DA. 1973; VOL. 48; NO 3; PP. 212-216; BIBL. 7REF.Serial Issue

A FAMILY WITH SYNDACTYLY TYPE II (SYNPOLYDACTYLY).RIDLER MAC; LAXOVA R; DEWHURST K et al.1977; CLIN. GENET.; DENM.; DA. 1977; VOL. 12; NO 4; PP. 213-220; BIBL. 8 REF.Article

Waardenburg syndrome type I in a child with deletion (2) (q35q36.2)KIRKPATRICK, S. J; KENT, C. M; LAXOVA, R et al.LAXOVA, R et al.American journal of medical genetics. 1992, Vol 44, Num 5, pp 699-700, issn 0148-7299Article

Pregnancy outcome, health of children, and family adjustment after donor inseminationAMUZU, B; LAXOVA, R; SHAPIRO, S. S et al.Obstetrics and gynecology (New York. 1953). 1990, Vol 75, Num 6, pp 899-905, issn 0029-7844Article

CONGENITAL GENERALIZED FIBROMATOSIS CASE REPORT AND LITERATURE REVIEWBRILL PW; YANDOW DR; LANGER LO et al.1982; PEDIATRIC RADIOLOGY; ISSN 0301-0449; DEU; DA. 1982; VOL. 12; NO 6; PP. 269-278; BIBL. 27 REF.Article

Delayed diagnosis in congenital adrenal hyperplasiaLEBOVITZ, R. M; PAULI, R. M; LAXOVA, R et al.American journal of diseases of children (1960). 1984, Vol 138, Num 6, pp 571-573, issn 0002-922XArticle

Previously unrecognized congenital progeroid disorderPETTY, E. M; LAXOVA, R; WIEDEMANN, H.-R et al.American journal of medical genetics. 1990, Vol 35, Num 3, pp 383-387, issn 0148-7299Article

De novo translocation involving chromosomes 1 and 4 resulting in partial duplication of 4q and partial deletion of 1pLEGARE, J. M; SEKHON, G. S; LAXOVA, R et al.American journal of medical genetics. 1994, Vol 53, Num 3, pp 216-221, issn 0148-7299Article

Renal insufficiency in Williams syndromeBIESECKER, L. G; LAXOVA, R; FRIEDMAN, A et al.American journal of medical genetics. 1987, Vol 28, Num 1, pp 131-135, issn 0148-7299Article

Dubowitz syndrome : long-term follow-up of an original patientHANSEN, K. E; KIRKPATRICK, S. J; LAXOVA, R et al.American journal of medical genetics. 1995, Vol 55, Num 2, pp 161-164, issn 0148-7299Article

The critical region on the human XqTHERMAN, E; LAXOVA, R; SUSMAN, B et al.Human genetics. 1990, Vol 85, Num 5, pp 455-461, issn 0340-6717, 7 p.Article

Opitz syndrome is genetically heterogeneous, with one locus on Xp22, and a second locus on 22q11.2ROBIN, N. H; FELDMAN, G. J; ALLANSON, J. E et al.Nature genetics. 1995, Vol 11, Num 4, pp 459-461, issn 1061-4036Article

Diagnostic criteria for Walker-Warburg syndromeDOBYNS, W. B; PAGON, R. A; ZIMMERMAN, R. L et al.American journal of medical genetics. 1989, Vol 32, Num 2, pp 195-210, issn 0148-7299Article

Normal dosage of the insulin and insulin-like growth factor II genes in patients with the Beckwith-wiedemann syndromeSPRITZ, R. A; MAGER, D; PAULI, R. M et al.American journal of human genetics. 1986, Vol 39, Num 2, pp 265-273, issn 0002-9297Article

Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinismSEUNG-TAEK LEE; NICHOLLS, R. D; BUNDEY, S et al.The New England journal of medicine. 1994, Vol 330, Num 8, pp 529-534, issn 0028-4793Article

Clinico-pathological report : a 7-year old white-male boy with progressive neurological deteriorationBARNESS, L. A; HENRY, K; KLING, P et al.American journal of medical genetics. 1991, Vol 40, Num 3, pp 271-279, issn 0148-7299Article

Kniest dysplasia : Radiologic, histopathological, and scanning electronmicroscopic findingsGILBERT-BARNES, E; LANGER, L. O; OPITZ, J. M et al.American journal of medical genetics. 1996, Vol 63, Num 1, pp 34-45, issn 0148-7299Article

Evaluation of the effectiveness of a teratogen information service : a survey of patient and professional satisfactionLUDOWESE, C. J; MARINI, T; LAXOVA, R et al.Teratology (Philadelphia, PA). 1993, Vol 48, Num 3, pp 233-245, issn 0040-3709Article

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