American journal of human genetics | Journament

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American journal of human genetics

Indexings
ncbi ulakbim sci
Short Name Am J Hum Genet
Abbreviated Name am j hum genet
ISSN 0002-9297
Aim and Scope
URL
Author Instructions

Publications Per Year

Recent Articles (51 total)

1994
Mismatch repair genes on chromosomes 2p and 3p account for a major share of hereditary nonpolyposis colorectal cancer families evaluable by linkage
Vol. 55 , No. 4 , pp. -
308 views Abstract
1997
Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients.
Vol. 61 , No. 3 , pp. 620-9
290 views Abstract
2019
Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging.
Vol. 105 , No. 3 , pp. 493-508
287 views DOI Abstract
2019
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
Vol. 104 , No. 6 , pp. 1210-1222
286 views DOI Abstract
2019
Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis.
265 views DOI Abstract
2002
Autosomal dominant familial calcium pyrophosphate dihydrate deposition disease is caused by mutation in the transmembrane protein ANKH.
Vol. 71 , No. 4 , pp. 985-91
258 views Abstract
2019
Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS.
Vol. 105 , No. 1 , pp. 151-165
249 views DOI Abstract
2020
Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism.
241 views DOI Abstract
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