Publications (876)
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Snail1 is a transcriptional effector of FGFR3 signaling during chondrogenesis and achondroplasias
Snail1 is a transcriptional effector of FGFR3 signaling during chondrogenesis and achondroplasias
de Frutos CA, Vega S, Manzanares M, Flores JM, Huertas H, Martinez-Frias M-L, Nieto MA
Developmental Cell, 2007 , 13: 872 - 883
Subjects: Genetics and Syndromes -
Survival and health in liveborn infants with transposition of great arteries - a population based study
Survival and health in liveborn infants with transposition of great arteries - a population based study
Garne E, Loane M, Nelen V, Bakker M, Gener B, Abramsky L, Addor M-C, Queisser-Luft A
Congenital Heart Diseases, 2007 , 2: (3) 165 - 169
Subjects: Prenatal Screening & Diagnosis
Anomalies: Congenital Heart Anomalies -
The first 4p euchromatic variant in a healthy carrier having an unusual reproductive history
The first 4p euchromatic variant in a healthy carrier having an unusual reproductive history
Rodriguez L, Zollino M, Mansilla E, Martinez-Fernandez ML, Perez P, Murdolo M, Martinez-Frias M-L
American Journal of Medical Genetics Part A, 2007 , 143A: 995 - 998
Subjects: Genetics and Syndromes -
The use of data set of the Hungarian case-control surveillance of congenital abnormalities for evaluation of birth outcomes beyond birth defects
The use of data set of the Hungarian case-control surveillance of congenital abnormalities for evaluation of birth outcomes beyond birth defects
Czeizel AE, Puho EH, Kazy Z
Central European Journal of Public Health, 2007 , 15: (4) 147 - 153
Subjects: Other, Prevalence & Perinatal Mortality, Prevention & Risk Factors, Survival & Neuro Development Outcomes -
Uncombable hair syndrome: a clinical report
Uncombable hair syndrome: a clinical report
Rieubland C, de Viragh PA, Addor M-C
European Journal of Medical Genetics, 2007 , 50: 309 - 314
Subjects: Genetics and Syndromes -
Use of phenytoin, phenobarbitol, or diazepam during pregnancy and risk of congenital abnormalities: a case-time-control study
Use of phenytoin, phenobarbitol, or diazepam during pregnancy and risk of congenital abnormalities: a case-time-control study
Kjaer D, Puho EH, Christensen J, Vestergaard M, Czeizel AE, Sorensen HT, Olsen J
Pharmacoepidemiology and Drug Safety, 2007 , 16: 181 - 188
Subjects: Medication During Pregnancy, Prevention & Risk Factors -
Use of phenytoin,, phenobarbital or diazepam during pregnancy and risk of congenital abnormalities: a case-time-control study
Use of phenytoin,, phenobarbital or diazepam during pregnancy and risk of congenital abnormalities: a case-time-control study
Kjaer D, Horvath-Puho E, Christensen J, Vestergaard M, Czeizel AE, Sorensen HT, Olsen J
Pharmacoepidemiology and Drug Safety, 2007 , 16: (2) 181 - 188
Subjects: Medication During Pregnancy, Prevention & Risk Factors -
Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16
Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16
Zollino M, Lecce R, Murdolo M, Orteschi D, Marangi G, Selicorni A, Midro A, Sorge G, Zampino G, Memo L, Battaglia D, Petersen M, Pandelia E, Gyftodimou Y, Faravelli F, Tenconi R, Garavelli L, Mazzanti L, Fischetto R, Cavalli P, Savasta S, Rodriguez L, Neri G
Human Genetics, 2007
Anomalies: Chromosomal (other than Down Syndrome) -
Advances in medical technology and creation of dispariites: the case of Down Syndrome
Advances in medical technology and creation of dispariites: the case of Down Syndrome
Khoshnood B, de Vigan C, Vovodar V, Breart G, Goffinet F, Blondel B
American Journal of Public Health, 2006 , 96: (12) 2139 - 2144
Anomalies: Down Syndrome -
Antenatal detection and impact on outcome of congenital diaphragmatic hernia: a 12-year experience in Auvergne (France)
Antenatal detection and impact on outcome of congenital diaphragmatic hernia: a 12-year experience in Auvergne (France)
Gallot D, Coste K, Francannet C, Laurichesse Delmas H, Boda C, Ughetto S, Vanlieferinghen P, Scheye T, Vendittelli F, Labbe A, Dechelotte PJ, Sapin V, Lemery D
European Journal of Obstetrics & Gynecology and Reproductive Biology, 2006 , 125: 202 - 205
Subjects: Prenatal Screening & Diagnosis, Prevalence & Perinatal Mortality
Anomalies: Digestive System Anomalies