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American Journal of Medical Genetics|December 20, 2000
Detection of expansion regions in Portuguese bipolar familiesC N Pato, A Macedo, A Ambrosio, et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques|October 18, 2005
Clinical stringency greatly improves mutation detection in Rett syndromeJulie Gauthier, Giovana de Amorim, Gevork N Mnatzakanian, et al.
Clinical Genetics|March 30, 2010
Mapping of three novel loci for non-syndromic autosomal recessive mental retardation (NS-ARMR) in consanguineous families from PakistanM A Rafiq, M Ansar, C R Marshall, et al.
Biochemical and Biophysical Research Communications|September 15, 1998
Neuropeptide specificity and inhibition of recombinant isoforms of the endopeptidase 3.4.24.16 family: comparison with the related recombinant endopeptidase 3.4.24.15V Rioli, A Kato, F C Portaro, et al.
Journal of Biological Inorganic Chemistry : JBIC : a Publication of the Society of Biological Inorganic Chemistry|November 19, 2010
Chromium is not an essential trace element for mammals: effects of a "low-chromium" dietKristin R Di Bona, Sharifa Love, Nicholas R Rhodes, et al.
Iscience|April 20, 2026
Changes in the chemical defenses of an invasive toad indicate drivers and limitations of adaptationMax Mühlenhaupt, James Baxter-Gilbert, Julia L Riley, et al.
American Journal of Human Genetics|January 9, 2008
An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1Christian Windpassinger, Benedikt Schoser, Volker Straub, et al.
Human Genetics|August 8, 2014
Identification of a homozygous splice site mutation in the dynein axonemal light chain 4 gene on 22q13.1 in a large consanguineous family from Pakistan with congenital mirror movement disorderIltaf Ahmed, Kirti Mittal, Taimoor I Sheikh, et al.
Molecular Psychiatry|June 15, 2026
Disruption of major Ptchd1 isoforms causes autistic traits in social behavior and communicationSangyoon Y Ko, Stephen F Pastore, Sungmo Park, et al.
Psychiatric Genetics|May 23, 2008
A translocation t(6;7)(p11-p12;q22) associated with autism and mental retardation: localization and identification of candidate genes at the breakpointsJohn B Vincent, Sanaa Choufani, Shin-ichi Horike, et al.
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