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American Journal of Human Genetics|July 1, 1988
Determination of the spectrum of beta-thalassemia genes in Spain by use of dot-blot analysis of amplified beta-globin DNAS Amselem, V Nunes, M Vidaud, et al.
American Journal of Human Genetics|December 1, 1988
Clinical and molecular heterogeneity of phenylalanine hydroxylase deficiencies in FranceF Rey, M Berthelon, C Caillaud, et al.
American Journal of Human Genetics|September 1, 1988
Maternal duplication associated with gene deletion in sporadic hemophiliaJ Gitschier
American Journal of Human Genetics|May 1, 1988
Chromosome I linkage studies in Charcot-Marie-Tooth neuropathy type IL R Griffiths, M B Zwi, J G McLeod, et al.
American Journal of Human Genetics|January 2, 2018
KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and ArthrogryposisLucie Gueneau, Richard J Fish, Hanan E Shamseldin, et al.
American Journal of Human Genetics|December 18, 2018
GGC Repeat Expansion and Exon 1 Methylation of XYLT1 Is a Common Pathogenic Variant in Baratela-Scott SyndromeAmy J LaCroix, Deborah Stabley, Rebecca Sahraoui, et al.
American Journal of Human Genetics|January 8, 2019
De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain AnomaliesKonrad Platzer, Heinrich Sticht, Stacey L Edwards, et al.
American Journal of Human Genetics|September 9, 2006
Satb2 haploinsufficiency phenocopies 2q32-q33 deletions, whereas loss suggests a fundamental role in the coordination of jaw developmentOlga Britanova, Michael J Depew, Manuela Schwark, et al.
American Journal of Human Genetics|September 9, 2006
HLA-B maternal-fetal genotype matching increases risk of schizophreniaChristina G S Palmer, Hsin-Ju Hsieh, Elaine F Reed, et al.
American Journal of Human Genetics|September 9, 2006
Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14Jennie Lugassy, Peter Itin, Akemi Ishida-Yamamoto, et al.
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