Y. Alembik : rechercher sur Z-Library

Année:

2008

Langue:

english

Fichier:

PDF, 64 KB

english, 2008

Evaluation of routine prenatal diagnosis by a registry of congenital anomalies

Professor C. Stoll, B. Dott, Y. Alembik, M. P. Roth

Journal:

Amélie Reibel, Marie-Cécile Manière, François Clauss, Dominique Droz, Yves Alembik, Etienne Mornet, Agnès Bloch-Zupan

Année:

1995

Langue:

english

Fichier:

PDF, 722 KB

english, 1995

Orodental phenotype and genotype findings in all subtypes of hypophosphatasia

Journal:

Orphanet Journal of Rare Diseases

Année:

2009

Langue:

english

Fichier:

PDF, 780 KB

english, 2009

Landau-Kleffner Syndrome: A Pharmacologic Study of Five Cases

Marescaux, C., Hirsch, E., Finck, S., Maquet, P., Schlumberger, E., Sellal, F., Metz-Lutz, M. N., Alembik, Y., Salmon, E., Franck, G., Kurtz, D.

Journal:

Epilepsia

Année:

1990

Langue:

english

Fichier:

PDF, 844 KB

english, 1990

Epidemiology of congenital eye malformations in 131,760 consecutive births

Stoll, C., Alembik, Y., Dott, B., Roth, M. P.

Journal:

Ophthalmic Genetics

Année:

1992

Langue:

english

Fichier:

PDF, 683 KB

english, 1992

Associated anomalies in cases with anorectal anomalies

Stoll, Claude, Dott, Beatrice, Alembik, Yves, Roth, Marie‐Paule

Journal:

DieudonnÃ©, Yannick, Uring-Lambert, Beatrice, Jeljeli, Mohamed Maxime, Gies, Vincent, Alembik, Yves, Korganow, Anne-Sophie, Guffroy, AurÃ©lien

Année:

2018

Langue:

english

Fichier:

PDF, 1.70 MB

english, 2018

TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A

Boussion, Simon, Escande, Fabienne, Jourdain, Anne-Sophie, Smol, Thomas, Brunelle, Perrine, Duhamel, CÃ©line, Alembik, Yves, AttiÃ©-Bitach, Tania, Baujat, GeneviÃ¨ve, Bazin, Anne, BonniÃ¨re, Maryse, C

Journal:

Human Mutation

Année:

2020

Fichier:

PDF, 777 KB

2020

Immune Defect in Adults With Down Syndrome: Insights Into a Complex Issue

Journal:

Frontiers in Immunology

Année:

2020

Fichier:

PDF, 1.85 MB

2020

Evaluation of prenatal diagnosis of congenital heart disease

C. Stoll, Y. Alembik, B. Dott, M. J. Meyer, A. Pennerath, M. O. Peter, B. De Geeter

Journal:

Année:

1998

Langue:

english

Fichier:

PDF, 135 KB

english, 1998

Further clinical and sensorial delineation of Schinzel-Giedion syndrome: Report of two cases

David Minn, Dominique Christmann, Anne De Saint-Martin, Yves Alembik, Mylène Eliot, Geneviève Mack, Michel Fischbach, Jacques Flament, Francis Veillon, Hélène Dollfus

Journal:

Année:

2002

Langue:

english

Fichier:

PDF, 271 KB

english, 2002

Probable localisation of the Coffin-Lowry locus in Xp22.2-P22.1 by multipoint linkage analysis

A. Hanauer, Y. Alembik, S. Gilgenkrantz, P. Mujica, A. Nivelon-Chevallier, M. E. Pembrey, I. D. Young, J. L. Mandel

Journal:

Année:

1988

Langue:

english

Fichier:

PDF, 349 KB

english, 1988

Linkage analysis suggests at least two loci for X-linked nonspecific mental retardation

B. Arveiler, Y. Alembik, A. Hanauer, P. Jacobs, L. Tranebjaerg, M. Mikkelsen, H. Puissant, L. Larget Piet, J. L. Mandel

Journal:

Année:

1988

Langue:

english

Fichier:

PDF, 472 KB

english, 1988

Dandy-walker variant malformation, spastic paraplegia, and mental retardation in two sibs

Claude Stoll, Christian Huber, Yves Alembik, Eliette Terrade, Daniel Maitrot

Journal:

Dr. Claude Stoll, Yves Alembik, Béatrice Dott, Marie-Paule Roth

Année:

1990

Langue:

english

Fichier:

PDF, 458 KB

english, 1990

Epidemiology of Down syndrome in 118,265 consecutive births

Journal:

Professor Claude Stoll, Jean-René Kieny, Béatrice Dott, Yves Alembik, Sonya Finck

Année:

1990

Langue:

english

Fichier:

PDF, 596 KB

english, 1990

Ventricular extrasystoles with syncopal episodes, perodactyly, and Robin sequence in three generations: A new inherited MCA syndrome?

Journal:

Professor Claude Stoll, Yves Alembik, Béatrice Dott, Josué Feingold

Année:

1992

Langue:

english

Fichier:

PDF, 568 KB

english, 1992

Parental consanguinity as a cause of increased incidence of birth defects in a study of 131, 760 consecutive birthsxs

Journal:

Professor Claude Stoll, Yves Alembik, Béatrice Dott, Josué Feingold

Année:

1994

Langue:

english

Fichier:

PDF, 401 KB

english, 1994

Reply to Newton Freire-Maia on inbreeding among medical geneticists II

Journal:

Année:

1995

Langue:

english

Fichier:

PDF, 68 KB

english, 1995

Clinical homogeneity and genetic heterogeneity in Weill–Marchesani syndrome

Laurence Faivre, Hélène Dollfus, Stanislas Lyonnet, Yves Alembik, André Mégarbané, John Samples, Robert J. Gorlin, Abdulrahman Alswaid, Josué Feingold, Martine Le Merrer, Arnold Munnich, Valérie Cormi

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 60 KB

english, 2003

Two cousins with partial trisomy 12q and monosomy 12p recombinants of a familial pericentric inversion of the chromosome 12

Clotilde Lagier-Tourenne, E. Ginglinger, Y. Alembik, A. De Saint Martin, M.O. Peter, P. Dulucq, P. Jonveaux, E. Jeandidier

Journal:

Année:

2004

Langue:

english

Fichier:

PDF, 133 KB

english, 2004

Intrachromosomal triplication for the distal part of chromosome 15q

C. Schluth, M. G. Mattei, C. Mignon-Ravix, S. Salman, Y. Alembik, J. Willig, E. Ginglinger, E. Jeandidier

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 166 KB

english, 2005

Associated malformations in patients with oral clefts

Claude Stoll, Yves Alembik, Beatrice Dott, Marie-Paule Roth

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 68 KB

english, 2007

Associated malformations among infants with neural tube defects

Claude Stoll, Beatrice Dott, Yves Alembik, Marie-Paule Roth

Journal:

Irving W. Wainer, Marc C. Alembik, Lawrence J. Fischer

Année:

2011

Langue:

english

Fichier:

PDF, 90 KB

english, 2011

HLA and down syndrome (DS): Parents at the origin of the nondisjunction share no more HLA-A and -B antigens with their DS child than controls

Dr. C. Stoll, Y. Alembik, N. Armbruster, MM Tongio, S. Mayer, D. C. Rao

Journal:

Genetic Epidemiology

Année:

1988

Langue:

english

Fichier:

PDF, 375 KB

english, 1988

Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy

Susanna Ranta, Meral Topcu, Saara Tegelberg, Hüseyin Tan, Alp Üstübütün, Isil Saatci, Andreas Dufke, Herbert Enders, Keith Pohl, Yves Alembik, Wayne A. Mitchell, Sara E. Mole, Anna-Elina Lehesjoki

Journal:

Human Mutation

Année:

2004

Langue:

english

Fichier:

PDF, 242 KB

english, 2004

The determination of (R)- and (S)-glutethimide and the corresponding 4-hydroxyglutethimide metabolises in human serum and urine using a Pirkle-type HPLC chiral stationary phase

Journal:

Journal of Pharmaceutical and Biomedical Analysis

Année:

1987

Langue:

english

Fichier:

PDF, 254 KB

english, 1987

Steric and electronic effects in the resolution of enantiomeric amides on a commercially available pirkle-type high-performance liquid chromatographic chiral stationary phase

Irving W. Wainer, Marc C. Alembik

Journal:

Irving W. Wainer, Marc C. Alembik

Année:

1986

Langue:

english

Fichier:

PDF, 656 KB

english, 1986

Resolution of enantiomeric amides on a cellulose-based chiral stationary phase : Steric and electronic effects

Journal:

Irving W. Wainer, Marc C. Alembik, Edward Smith

Année:

1986

Langue:

english

Fichier:

PDF, 574 KB

english, 1986

Resolution of enantiomeric amides on a cellulose tribenzoate chiral stationary phase : Mobile phase modifier effects on retention and stero-selectivity

Journal:

Année:

1987

Langue:

english

Fichier:

PDF, 667 KB

english, 1987

Resolution of enentiomeric amides on a pirklet-type chiral stationary phase : A comparison of subcritical fluid and liquid chromatographic approaches

P. Macaudiere, A. Tambute, M. Caude, R. Rosset, M.A. Alembik, I.W. Wainr

Journal:

Année:

1986

Langue:

english

Fichier:

PDF, 879 KB

english, 1986

Evaluation of prenatal diagnosis by a registry of congenital anomalies

Claude Stoll, Yves Alembik, Béatrice Dott, Marie-Paule Roth, Sonja Finck

Journal:

Année:

1992

Langue:

english

Fichier:

PDF, 446 KB

english, 1992

Evaluation of prenatal diagnosis of congenital heart disease

C. Stoll, Y. Alembik, B. Dott, P. M. Roth, B. De Geeter

Journal:

Année:

1993

Langue:

english

Fichier:

PDF, 579 KB

english, 1993

Evaluation of prenatal diagnosis of limb reduction defects by a registry of congenital anomalies

Professor C. Stoll, Y. Alembik, B. Dott, M. P. Roth

Journal:

Année:

1994

Langue:

english

Fichier:

PDF, 513 KB

english, 1994

Risk factors in congenital heart disease

C. Stoll, Y. Alembik, M. P. Roth, B. Dott, B. Geeter

Journal:

Année:

1989

Langue:

english

Fichier:

PDF, 886 KB

english, 1989

An epidemiologic study of environmental and genetic factors in congenital hydrocephalus

C. Stoll, Y. Alembik, B. Dott, M. P. Roth

Journal:

Claude Stoll, Béatrice Dott, Yves Alembik, Marie-Paule Roth

Année:

1992

Langue:

english

Fichier:

PDF, 620 KB

english, 1992

Evaluation of routine prenatal ultrasound examination in detecting fetal chromosomal abnormalities in a low risk population

Journal:

Human Genetics

Année:

1993

Langue:

english

Fichier:

PDF, 474 KB

english, 1993

Hypohidrotic ectodermal dysplasia

Simone Gilgenkrantz, Claudine Blanchet-Bardon, V. Nazzaro, Lorena Formiga, Patricia Mujica, Y. Alembik

Journal:

Human Genetics

Année:

1989

Langue:

english

Fichier:

PDF, 328 KB

english, 1989

Evaluation of prenatal diagnosis of congenital gastro-intestinal atresias

C. Stoll, Y. Alembik, B. Dott, M. P. Roth

Journal:

Année:

1996

Langue:

english

Fichier:

PDF, 575 KB

english, 1996

Genetic mapping of anhidrotic ectodermal dysplasia: DXS159, a closely linked proximal marker

A. Hanauer, Y. Alembik, B. Arveiler, L. Formiga, S. Gilgenkrantz, J. L. Mandel

Journal:

Human Genetics

Année:

1988

Langue:

english

Fichier:

PDF, 395 KB

english, 1988

Risk factors in internal urinary system malformations

C. Stoll, Y. Alembik, M. P. Roth, B. Dott, P. Sauvage

Journal:

Pediatric Nephrology

Année:

1990

Langue:

english

Fichier:

PDF, 553 KB

english, 1990

Prenatal detection of internal urinary system's anomalies

C. Stoll, Y. Alembik, B. Dott, M. P. Roth

Journal:

Irving W. Wainer, Marc C. Alembik, Carl R. Johnson

Année:

1995

Langue:

english

Fichier:

PDF, 898 KB

english, 1995

Resolution of chiral sulfur compounds on a cellulose-based high-performance liquid chromatographic chiral stationary phase

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Année:

1986

Langue:

english

Fichier:

PDF, 341 KB

english, 1986

X-linked and autosomal recessive Hypohidrotic Ectodermal Dysplasia: genotypic-dental phenotypic findings

F Clauss, N Chassaing, A Smahi, MC Vincent, P Calvas, M Molla, H Lesot, Y Alembik, S Hadj-Rabia, C Bodemer, MC Manière, M Schmittbuhl

Journal:

Clinical Genetics

Année:

2010

Langue:

english

Fichier:

PDF, 550 KB

english, 2010

Associated malformations among infants with anophthalmia and microphthalmia

Claude Stoll, Beatrice Dott, Yves Alembik, Marie-Paule Roth

Journal:

Année:

2012

Langue:

english

Fichier:

PDF, 727 KB

english, 2012

Evaluation of prenatal diagnosis of cleft lip/palate by foetal ultrasonographic examination

Claude Stoll, Béatrice Dott, Yves Alembik, Marie-Paule Roth

Journal:

Année:

2000

Langue:

english

Fichier:

PDF, 44 KB

english, 2000

Evaluation and evolution during time of prenatal diagnosis of congenital heart diseases by routine fetal ultrasonographic examination

C Stoll, B Dott, Y Alembik, B De Geeter

Journal:

Année:

2002

Langue:

english

Fichier:

PDF, 72 KB

english, 2002

Impact of prenatal diagnosis on livebirth prevalence of children with congenital anomalies

Claude Stoll, Y Alembik, B Dott, M.P Roth

Journal:

Claude Stoll, Yves Alembik, Béatrice Dott, Marie-Paule Roth

Année:

2002

Langue:

english

Fichier:

PDF, 82 KB

english, 2002

Study of placenta of children born with congenital malformations

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 57 KB

english, 2003

Risk factors in congenital abdominal wall defects (omphalocele and gastroschisi): a study in a series of 265 858 consecutive births

C. Stoll, Y. Alembik, B. Dott, M.P. Roth

Journal:

Année:

2001

Langue:

english

Fichier:

PDF, 58 KB

english, 2001

Limb reduction defects in the first generation and deafness in the second generation of intrauterine exposed fetuses to diethylstilbestrol

C. Stoll, Y. Alembik, B. Dott

Journal: