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Annals of Human Genetics|October 3, 2018
A novel heterozygous variant p.(Trp538Arg) of SYNM is identified by whole-exome sequencing in a Chinese family with dilated cardiomyopathyShu-Bing Zhang, Yu-Xing Liu, Liang-Liang Fan, et al.
Annals of Human Genetics|October 11, 2018
Confirmation of BRD4 haploinsufficiency role in Cornelia de Lange-like phenotype and delineation of a 19p13.12p13.11 gene contiguous syndromeViola Alesi, Maria Lisa Dentici, Sara Loddo, et al.
Annals of Human Genetics|April 10, 2019
Association of MIR146A rs2910164 variation with a predisposition to sporadic breast cancer in a Pakistani cohortMushtaq Ahmad, Sadia Ahmad, Bashir Rahman, et al.
Annals of Human Genetics|April 18, 2019
Classic galactosaemia in the Greek Cypriot population: An epidemiological and molecular studyRena Papachristoforou, Petros P Petrou, Hilary Sawyer, et al.
Annals of Human Genetics|July 1, 1987
The LW:C3 recombination fraction in female meiosesM Lewis, H Kaita, S Philipps, et al.
Annals of Human Genetics|October 10, 2019
MTF1 binds to metal-responsive element e within the ATP7B promoter and is a strong candidate in regulating the ATP7B expressionAmelie Stalke, Eva-Doreen Pfister, Ulrich Baumann, et al.
Annals of Human Genetics|October 16, 2019
5α-Reductase type 2 deficiency in families from an isolated Andean population in VenezuelaAndrea Avendaño, Mercedes González-Coira, Irene Paradisi, et al.
Annals of Human Genetics|September 25, 2018
DYNC1H1 gene methylation correlates with severity of spinal muscular atrophyMarianna Maretina, Anna Egorova, Vladislav Baranov, et al.
Annals of Human Genetics|June 29, 2017
Macrophage Migration Inhibitory Factor (MIF) Gene Promotor Polymorphism Is Associated with Increased Fibrosis in Biliary Atresia Patients, but Not with Disease SusceptibilityKhaled H Sadek, Sameera Ezzat, Samira A Abdel-Aziz, et al.
Annals of Human Genetics|October 1, 1989
Mitochondrial DNA polymorphism detected with the restriction enzymes BstNI and BclI in a French Canadian populationY Gélinas, L Turcotte, C Bouchard, et al.
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