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Radiology|October 21, 2006
Fetal body volume: use at MR imaging to quantify relative lung volume in fetuses suspected of having pulmonary hypoplasiaMieke Cannie, Jacques C Jani, Frederik De Keyzer, et al.
Nucleic Acids Research|May 16, 2006
Single-cell chromosomal imbalances detection by array CGHCedric Le Caignec, Claudia Spits, Karen Sermon, et al.
Human Mutation|October 6, 2009
Recurrent copy number alterations in BRCA1-mutated ovarian tumors alter biological pathwaysKarin Leunen, Olivier Gevaert, Anneleen Daemen, et al.
European Journal of Medical Genetics|June 28, 2014
Homozygous loss-of-function mutation in ALMS1 causes the lethal disorder mitogenic cardiomyopathy in two siblingsJacoba J Louw, Anniek Corveleyn, Yaojuan Jia, et al.
Journal of Medical Genetics|November 12, 2010
2q31.1 microdeletion syndrome: redefining the associated clinical phenotypeBoyan Dimitrov, Irina Balikova, Thomy de Ravel, et al.
American Journal of Human Genetics|October 23, 2004
Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardationJiong Tao, Hilde Van Esch, M Hagedorn-Greiwe, et al.
Kidney International|September 17, 2005
Mapping of a new candidate locus for uromodulin-associated kidney disease (UAKD) to chromosome 1q41Katerina Hodanová, Jacek Majewski, Martina Kublová, et al.
European Journal of Human Genetics : EJHG|September 14, 2006
X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11Lars Riff Jensen, Steffen Lenzner, Bettina Moser, et al.
American Journal of Human Genetics|November 13, 2002
Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiencyFrédéric Laumonnier, Nathalie Ronce, Ben C J Hamel, et al.
Human Genetics|March 3, 2007
Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic regionGuy Froyen, Marijke Bauters, Jackie Boyle, et al.
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