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American Journal of Human Genetics
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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
A novel approach for enrichment of fetal cells using a microfabricated silicon membrane.
2003
Abnormal connective tissue remodeling in mice deficient for relaxin receptor (LGR7).
2003
Expansion of fetal cells in the maternal circulation occurred using Progehitor RosetteSep™ enrichment procedure with IL-3, SCF and G-CSF
2003
Fetal DNA in maternal plasma circulates as apoptotic bodies: Elucidation of the structural nature of fetal DNA for non-invasive prenatal genetic diagnosis.
2003
Inter-laboratory comparison of fetal DNA detection from common maternal plasma samples using real-time PCR.
2003
Quantitative detection of fetal DNA using dried maternal blood spots for generalized prenatal screening.
2003
Intact fetal cell isolation from maternal blood using neither MACS nor flow cytometry:: Improved isolation using a simple whole blood progenitor cell enrichment approach (RosetteSep™)
2002
More cell-free fetal DNA from maternal plasma recovered using vacuum pump preparation: A step toward more accurate fetal DNA analysis
2002
Obstetricians initially appear to find the ACOG/ACMG cystic fibrosis screening guidelines difficult to implement.
2002
Cloning great - G protein-coupled receptor affecting testicular descent.
2001
First trimester maternal plasma detection of fetal specific DNA: Anti-coagulant influences sensitivity of real-time PCR.
2001
Improved MACS/CD71 fetal cell detection with rapid processing of maternal blood.
2001
Increased active GSTM1 (+/+;+/-) genotypes in endometriosis.
2001
Pragmatic implications (few normal embryos) of preimplantation genetic diagnosis (PGD) for chromosomal rearrangements.
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
Isolating fetal cells from maternal blood: Strategies to increase sensitivity for fetal aneuploidy detection.
1999
Multicenter study of fetal cell recovery from maternal circulation and analysis.
1999
Skewed X-chromosome inactivation in 47,XXY and 48,XXYY patients: Potential explanation for phenotypic variation among Klinefelter individuals.
1999
Searching for modifier gene(s) in limb girdle muscular dystrophy type 2B and Miyoshi myopathy
1997
Ten year cohort of 961 liveborns: No evidence for aging gametes leading to Down syndrome.
1997
ANOTHER LOCUS FOR LIMB-GIRDLE MUSCULAR-DYSTROPHY
1995
DETECTION OF XY/XXY MOSAICISM IN FETAL CELLS ISOLATED FROM MATERNAL BLOOD - IS ANALYSIS OF FETAL CELLS IN MATERNAL BLOOD MORE SENSITIVE THAN INVASIVE ANALYSIS
1995
FETAL CELLS IN MATERNAL BLOOD - MORE EFFICACIOUS FISH ANALYSIS BY USING GAMMA-GLOBIN MESSENGER-RNA TO IDENTIFY FETAL CELLS AFTER FLOW-SORTING
1995
MOLECULAR ANALYSIS OF P53 IN ENDOMETRIOSIS BY SINGLE-STRANDED CONFORMATIONAL POLYMORPHISM
1995
OPTIMIZED DETECTION OF FETAL NUCLEATED RED-BLOOD-CELLS IN THE MATERNAL CIRCULATION - ELIMINATION OF GLYCOPHORIN A (GLYA) AS A SELECTION MARKER, DEPLETION OF CD45(+) CELLS BY PANNING, FLOW SORTING FOR CD71 OR GAMMA-GLOBIN EXPRESSION
1995
RAPID FLUORESCENCE IN-SITU HYBRIDIZATION (FISH) FOR THE IDENTIFICATION OF FETAL SEX USING CHORIONIC VILLI SAMPLING (CVS) TRANSPORT MEDIA - A USEFUL METHOD IN THE DEVELOPMENT OF PROTOCOLS FOR THE ISOLATION AND ANALYSIS OF FETAL CELLS FROM MATERNAL BLOOD
1995
ADVERSE OUTCOME IN PATIENTS SCREEN-POSITIVE FOR NEURAL-TUBE DEFECTS AND FETAL DOWN-SYNDROME - INCREASED RISK FOR INTRAUTERINE GROWTH-RETARDATION AND ADVERSE PERINATAL OUTCOME
1993
IMPROVED SPECIFICITY OF MATERNAL SERUM SCREENING FOR FETAL DOWN-SYNDROME BY EXCLUDING UE3 LEVEL
1993
ISOLATED 1ST-TRIMESTER CYSTIC HYGROMA - CLINICAL COURSE, NEWBORN OUTCOME AND INFANT DEVELOPMENT
1993
PRENATAL DETECTION OF A DE-NOVO SUPERNUMERARY MARKER CHROMOSOME AS DER(2)(P13Q12) IN A FETUS WITH ABNORMAL FACIES, SINGLE UMBILICAL ARTERY AND DIAPHRAGMATIC-HERNIA
1993
CORRELATION BETWEEN MUTATIONS IN THE HUMAN SRY GENE AND 46,XY PURE GONADAL-DYSGENESIS
1991
EARLY AMNIOCENTESIS - COMPLICATIONS IN INITIAL 150 CASES COMPARED TO COMPLICATIONS IN INITIAL 150 CASES OF TRANSABDOMINAL CHORIONIC VILLUS SAMPLING
1991
FETAL CELLS IN THE MATERNAL CIRCULATION - ISOLATION BY MULTIPARAMETER FLOW-CYTOMETRY AND CONFIRMATION BY PCR
1991
FREQUENCY AND TIMING OF PREGNANCY LOSSES THROUGHOUT GESTATION
1991
GONADAL-DYSGENESIS IN 46,XX INDIVIDUALS - FREQUENCY OF THE AUTOSOMAL RECESSIVE FORM
1991
MATERNAL SERUM SCREENING FOR FETAL DOWN-SYNDROME IN WOMEN LESS THAN 35 YEARS OF AGE - HUMAN CHORIONIC-GONADOTROPIN (HCG), ALPHA-FETOPROTEIN (AFP) AND UNCONJUGATED ESTRIOL (UE3)
1991
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
Increasing the genomic workforce through research capacity building: Designing evaluation plans for maximum impact
2025
Identifiers
International Standard Serial Number (ISSN)
0002-9297
Electronic International Standard Serial Number (EISSN)
1537-6605
