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AMERICAN JOURNAL OF HUMAN GENETICS
Journal
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Overview
publication venue for
Rare coding variants in 35 genes associate with circulating lipid levels-A multi-ancestry analysis of 170,000 exomes
. 109:81-96.
2022
The Genetic Legacy of Zoroastrianism in Iran and India: Insights into Population Structure, Gene Flow, and Selection
. 101:353-368.
2017
Transcription factor
FIGLA
is mutated in patients with Premature Ovarian Failure
. 82:1342-1348.
2008
NOBOX homeobox mutation causes premature ovarian failure
. 81:576-581.
2007
RAB23 mutations in carpenter syndrome imply an unexpected role for Hedgehog signaling in cranial-suture development and obesity
. 80:1162-1170.
2007
Limb-girdle muscular dystrophy type 2H associated with mutation in
TRIM32
, a putative E3-ubiquitin-ligase gene
. 70:663-672.
2002
Prevalence and penetrance of germline
BRCA1
and
BRCA2
mutations in a population series of 649 women with ovarian cancer
. 68:700-710.
2001
BRCA1
and
BRCA2
mutation analysis of 208 Ashkenazi Jewish women with ovarian cancer
. 66:1259-1272.
2000
Y chromosomes traveling south: The Cohen modal haplotype and the origins of the Lemba - the "black Jews of Southern Africa"
. 66:674-686.
2000
A gene for autosomal recessive limb-girdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31-q33: Evidence for another limb-girdle muscular dystrophy locus
. 63:140-147.
1998
Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype
. 59:872-878.
1996
DELETION (X)(Q26.1-]Q28) IN A PROBAND AND HER MOTHER - MOLECULAR CHARACTERIZATION AND PHENOTYPIC-KARYOTYPIC DEDUCTIONS
. 52:463-471.
1993
SHARED HLA ANTIGENS AND REPRODUCTIVE-PERFORMANCE AMONG HUTTERITES
. 35:994-1004.
1983
Abnormal connective tissue remodeling in mice deficient for relaxin receptor (LGR7).
2003
Cloning great - G protein-coupled receptor affecting testicular descent.
2001
Low serum creatine kinase can be seen in LGMD2H individuals with co-existing rheumatoid arthritis.
2000
Male sexual development in the absence of Sry.
2000
Identical mutation in the dysferlin gene can cause either a limb girdle muscular dystrophy Type 2B or a Miyoshi myopathy phenotype.
1999
Identification and characterization of the candidate genes involved into proliferation and/or improper migration of primordial germ cells in gcd mutant mice.
1999
Searching for modifier gene(s) in limb girdle muscular dystrophy type 2B and Miyoshi myopathy
1997
ANOTHER LOCUS FOR LIMB-GIRDLE MUSCULAR-DYSTROPHY
1995
WEYERS ULNAR RAY/OLIGODACTYLY SYNDROME AND THE ASSOCIATION OF MIDLINE MALFORMATIONS AS A DEVELOPMENTAL FIELD DEFECT
1991
HOMOCYSTINURIA - KINETICS AND BIODISTRIBUTION OF INDIUM-111-LABELED PLATELETS
1982
Re: Update on MSAFP Policy Statement from the ASHG
1990
UPDATE ON MSAFP POLICY STATEMENT FROM THE ASHG
1990
Research
category
GENETICS & HEREDITY
Category
Identifiers
International Standard Serial Number (ISSN)
0002-9297
Electronic International Standard Serial Number (EISSN)
1537-6605
Other
journal abbreviation
AM J HUM GENET