American Journal of Human Genetics

Journal Abbreviation: AM J HUM GENET
ISSN: 0002-9297
Publisher: Elsevier (Cell Press)



Publications

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Journal issue: 2, Volume: 104, Pages range: 203-212
De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies (2019)
Platzer K, Sticht H, Edwards SL, et al.

Journal issue: 1, Volume: 104, Pages range: 21-34
Polygenic Risk Scores for Prediction of Breast Cancer and Breast Cancer Subtypes (2019)
Mavaddat N, Michailidou K, Dennis J, et al.

Journal issue: 2, Volume: 103, Pages range: 305-316
De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder (2018)
Gregor A, Sadleir LG, Asadollahi R, et al.

Journal issue: 3, Volume: 102, Pages range: 468-479
Mutations in the BAF-Complex Subunit DPF2 Are Associated with Coffin-Siris Syndrome (2018)
Vasileiou G, Vergarajauregui S, Endele S, et al.

Journal issue: 4, Volume: 101, Pages range: 503-515
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features (2017)
Stankiewicz P, Khan TN, Szafranski P, et al.

Journal issue: 3, Volume: 100, Pages range: 555-561
Hypomorphic Pathogenic Variants in TAF13 Are Associated with Autosomal-Recessive Intellectual Disability and Microcephaly (2017)
Tawamie H, Martianov I, Wohlfahrt N, et al.

Journal issue: 4, Volume: 99, Pages range: 903-911
Evidence that the 5p12 Variant rs10941679 Confers Susceptibility to Estrogen-Receptor-Positive Breast Cancer through FGF10 and MRPS30 Regulation (2016)
Ghoussaini M, French JD, Michailidou K, et al.

Journal issue: 5, Volume: 99, Pages range: 1172-1180
Loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid Glycine (2016)
Kurolap A, Armbruster A, Hershkovitz T, et al.


Last updated on 2019-16-01 at 05:50