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European Journal of Human Genetics : EJHG|January 1, 1995
DNA-based presymptomatic diagnosis for the von Hippel-Lindau disease by linkage analysisS Olschwang, C Boisson, S Richard, et al.
European Journal of Human Genetics : EJHG|January 1, 1995
Cosmid contigs from the tuberous sclerosis candidate region on chromosome 9q34M van Slegtenhorst, B Janssen, M Nellist, et al.
European Journal of Human Genetics : EJHG|January 1, 1995
A provisional transcript map of the spinal muscular atrophy (SMA) critical regionG van der Steege, T G Draaijers, P M Grootscholten, et al.
European Journal of Human Genetics : EJHG|January 1, 1996
Pure familial spastic paraplegia: clinical and genetic analysis of nine Belgian pedigreesP De Jonghe, L Krols, A Michalik, et al.
European Journal of Human Genetics : EJHG|January 1, 1996
Spectrum of craniosynostosis phenotypes associated with novel mutations at the fibroblast growth factor receptor 2 locusL J Pulleyn, W Reardon, D Wilkes, et al.
European Journal of Human Genetics : EJHG|January 1, 1996
Fibulin-2: genetic mapping and exclusion as a candidate gene in Marfan syndrome type 2G Collod, M L Chu, T Sasaki, et al.
European Journal of Human Genetics : EJHG|April 20, 2017
Variants in CPLX1 in two families with autosomal-recessive severe infantile myoclonic epilepsy and IDSilke Redler, Tim M Strom, Thomas Wieland, et al.
European Journal of Human Genetics : EJHG|November 17, 2016
Communicating microarray results of uncertain clinical significance in consultation summary letters and implications for practiceJean Lillian Paul, Rachel Pope-Couston, Samantha Wake, et al.
European Journal of Human Genetics : EJHG|November 17, 2016
International differences in the evaluation of conditions for newborn bloodspot screening: a review of scientific literature and policy documentsMarleen E Jansen, Selina C Metternick-Jones, Karla J Lister
European Journal of Human Genetics : EJHG|October 27, 2016
Two novel variants in CNTNAP1 in two siblings presenting with congenital hypotonia and hypomyelinating neuropathyMathilde Nizon, Benjamin Cogne, Jean-Michel Vallat, et al.
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