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Journal of Medical Genetics|March 1, 1990
Microphthalmia with single central incisor and hypopituitarismH G Artman, E BoydenJournal of Medical Genetics|March 1, 1990
A case of atelosteogenesisK Temple, C A Hall, L Chitty, et al.Journal of Medical Genetics|April 1, 1990
Reliability of prenatal diagnosis of genetic diseases by analysis of amplified trophoblast DNAM C Rosatelli, R Sardu, T Tuveri, et al.Journal of Medical Genetics|April 1, 1990
Rothmund-Thomson syndrome associated with trisomy 8 mosaicismK L Ying, J Oizumi, C J CurryJournal of Medical Genetics|April 1, 1990
Fetal brain disruption sequence: a milder variantC G Bönnemann, P MeineckeJournal of Medical Genetics|February 9, 2013
Agenesis of corpus callosum and optic nerve hypoplasia due to mutations in SLC25A1 encoding the mitochondrial citrate transporterSimon Edvardson, Vito Porcelli, Chaim Jalas, et al.Journal of Medical Genetics|February 12, 2013
From the periphery to centre stage: de novo single nucleotide variants play a key role in human genetic diseaseChee-Seng Ku, Eng King Tan, David N CooperJournal of Medical Genetics|April 23, 2013
A novel syndrome of hypohidrosis and intellectual disability is linked to COG6 deficiencyRanad Shaheen, Shinu Ansari, Muneera J Alshammari, et al.Journal of Medical Genetics|July 13, 2013
Prevalence of rare mitochondrial DNA mutations in mitochondrial disordersSylvie Bannwarth, Vincent Procaccio, Anne Sophie Lebre, et al.Journal of Medical Genetics|July 25, 2013
Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencingKevin P Kenna, Russell L McLaughlin, Susan Byrne, et al.Pageof 649