An urgent need for a change in policy revealed by a study on prenatal testing for Duchenne muscular dystrophy
Helderman-van den Enden, Apollonia T J M, Madan, Kamlesh, Breuning, Martijn H, van der Hout, Annemieke H, Bakker, Egbert, de Die-Smulders, Christine E M, Ginjaar, Hendrika B
Published in European journal of human genetics : EJHG (06.06.2012)
Published in European journal of human genetics : EJHG (06.06.2012)
Get full text
Journal Article
An urgent need for a change in policy revealed by a study on prenatal testing for Duchenne muscular dystrophy
Helderman-van den Enden, Apollonia T J M, Madan, Kamlesh, Breuning, Martijn H, van der Hout, Annemieke H, Bakker, Egbert, de Die-Smulders, Christine E M, Ginjaar, Hendrika B
Published in European journal of human genetics : EJHG (01.01.2013)
Published in European journal of human genetics : EJHG (01.01.2013)
Get full text
Journal Article
Selective chromosome analysis in couples with two or more miscarriages: case-control study
Franssen, Maureen T M, Korevaar, Johanna C, Leschot, Nico J, Bossuyt, Patrick M M, Knegt, Alida C, Gerssen-Schoorl, Klasien B J, Wouters, Cokkie H, Hansson, Kerstin B M, Hochstenbach, Ron, Madan, Kamlesh, van der Veen, Fulco, Goddijn, Mariette
Published in BMJ (16.07.2005)
Published in BMJ (16.07.2005)
Get full text
Journal Article
Multiple genomic aberrations in a patient with mental retardation and hypogonadism: 45,X/46,X,psu dic(Y) karyotype, thyroid hormone receptor beta (THRB) mutation and heterozygosity for Wilson disease
Hes, Frederik J., Madan, Kamlesh, Rombout‐Liem, I. Shan, Szuhai, Karoly, Sørensen, Helena, van Amstel, Hans Kristian Ploos, Bakker, Egbert, Visser, Theo J., Smit, Johannes W., Hansson, Kerstin
Published in American journal of medical genetics. Part A (01.10.2009)
Published in American journal of medical genetics. Part A (01.10.2009)
Get full text
Journal Article
Cerebellar hypoplasia, zonular cataract, and peripheral neuropathy in trisomy 17 mosaicism
Terhal, Paulien, Sakkers, Ralph, Hochstenbach, Ron, Madan, Kamlesh, Rabelink, Gwenda, Sinke, Richard, Giltay, Jacques
Published in American journal of medical genetics. Part A (01.11.2004)
Published in American journal of medical genetics. Part A (01.11.2004)
Get full text
Journal Article
'Identical' twins with discordant karyotypes
Nieuwint, Aggie, Van Zalen-Sprock, Rieteke, Hummel, Pieter, Pals, Gerard, Van Vugt, John, Van Der Harten, Hans, Heins, Yvonne, Madan, Kamlesh
Published in Prenatal diagnosis (01.01.1999)
Published in Prenatal diagnosis (01.01.1999)
Get full text
Journal Article
Multiple genomic aberrations in a patient with mental retardation and hypogonadism: 45,X/46,X,psu dic(Y) karyotype, thyroid hormone receptor beta (THRB) mutation and heterozygosity for Wilson disease
Hes, Frederik J., Madan, Kamlesh, Rombout-Liem, I. Shan, Szuhai, Karoly, Sørensen, Helena, van Amstel, Hans Kristian Ploos, Bakker, Egbert, Visser, Theo J., Smit, Johannes W., Hansson, Kerstin
Published in American Journal of Medical Genetics Part A (01.10.2009)
Published in American Journal of Medical Genetics Part A (01.10.2009)
Get full text
Report
Duplication/deficiency product of a pericentric inversion in man: A cause of D1 trisomy syndrome
Taysi, Kutay, Bobrow, Martin, Balci, Sewim, Madan, Kamlesh, Atasu, Metin, Say, Burhan
Published in The Journal of pediatrics (01.01.1973)
Published in The Journal of pediatrics (01.01.1973)
Get full text
Journal Article
Familial benign hypercalcaemia (FBH; McK. No. 14598, 1983): linkage studies in a large Dutch family
Menko, F H, Bijvoet, O L, Meera Khan, P, Nijenhuis, L E, von Loghem, E, Schreuder, I, Bernini, L F, Pronk, J C, Madan, K, Went, L N
Published in Human genetics (01.09.1984)
Published in Human genetics (01.09.1984)
Get more information
Journal Article