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Clinical Dysmorphology|January 1, 1996
Ectrodactyly of lower limbs, congenital heart defect and characteristic facies in four unrelated Dutch patients: a new associationJ J Van Den Ende, C J Van Der Burgt, M C Jansweijer, et al.
Molecular Endocrinology (Baltimore, Md.)|June 17, 1998
A homozygous mutation in the luteinizing hormone receptor causes partial Leydig cell hypoplasia: correlation between receptor activity and phenotypeJ W Martens, M Verhoef-Post, N Abelin, et al.
The Journal of Clinical Endocrinology and Metabolism|November 1, 1995
A missense mutation in the second transmembrane segment of the luteinizing hormone receptor causes familial male-limited precocious pubertyR Kraaij, M Post, H Kremer, et al.
Journal of Hepatology|February 1, 1993
Serum bile acids and esterified bilirubin in early detection and differential diagnosis of hepatic dysfunction following orthotopic liver transplantationM Muraca, K Kohlhaw, M T Vilei, et al.
Scandinavian Journal of Gastroenterology. Supplement|January 1, 1983
Effect of sucralfate on peptic ulcer recurrence: a controlled double-blind multicenter studyM Classen, H Bethge, G Brunner, et al.
European Journal of Human Genetics : EJHG|September 11, 2008
Compound heterozygosity for two MSH2 mutations suggests mild consequences of the initiation codon variant c.1A>G of MSH2Carolien M Kets, Nicoline Hoogerbrugge, Joannes H J M van Krieken, et al.
Human Genetics|December 1, 1988
The gene for X-linked progressive mixed deafness with perilymphatic gusher during stapes surgery (DFN3) is linked to PGKH G Brunner, A van Bennekom, E M Lambermon, et al.
Genomics|October 1, 1989
A multipoint linkage map around the locus for myotonic dystrophy on chromosome 19H G Brunner, H Smeets, H M Lambermon, et al.
Human Molecular Genetics|December 6, 2001
CRB1 has a cytoplasmic domain that is functionally conserved between human and DrosophilaA I den Hollander, K Johnson, Y J de Kok, et al.
American Journal of Medical Genetics|April 10, 1995
Autosomal recessive Melnick-Needles syndrome or ter Haar syndrome? Report of a patient and reappraisal of an earlier reportB C Hamel, J M Draaisma, A J Pinckers, et al.
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