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Phenotypic abnormality
Known as:
Organ abnormality
A phenotypic abnormality. [HPO:probinson]
National Institutes of Health
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2013
2013
Laparoscopic Evaluation of Pelvic Organs In Case of Infertility
Maherunnessa
,
T. Chowdhury
,
S. Jahan
,
N. Begum
,
S. Sultana
,
Umme Rumman
2013
Corpus ID: 43884115
Objective: Evaluation of pelvic organs by laparoscopy in infertile patient. Background: Despite of absence of any known risk…
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2005
2005
Prenatal Diagnosis of Minute Supernumerary Marker Chromosomes
P. Cotter
,
K. Drexler
,
+4 authors
M. Norton
Gynecologic and Obstetric Investigation
2005
Corpus ID: 41232736
The identification of supernumerary marker chromosomes (SMC) at prenatal diagnosis is problematic, particularly for the…
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2003
2003
Calcineurin, myocardial hypertrophy, and electrical remodeling.
R. Wolk
Cardiovascular Research
2003
Corpus ID: 38460512
1994
1994
Balanced autosomal translocations and ovarian dysgenesis
R. Tupler
,
L. Barbierato
,
D. Larizza
,
P. Sampaolo
,
F. Piovella
,
P. Maraschio
Human Genetics
1994
Corpus ID: 36563934
We report two unrelated women with gonadal dysgenesis, and a (6;15)(p21.3;q15) and a (8;9)(p11.2;q12) balanced translocation…
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1993
1993
Linkage analysis in familial Angelman syndrome.
Joseph Wagstaff
,
Y. Shugart
,
M. Lalande
American Journal of Human Genetics
1993
Corpus ID: 39731372
Familial Angelman syndrome (AS) can result from mutations in chromosome 15q11q13 that, when transmitted from father to child…
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1991
1991
Post‐mortem findings in a fetus with 48,XXY, + 21
Arabella Smith
,
G. Watson
,
J. Michas
,
R. Vtersbach
,
D. Ellwood
Prenatal Diagnosis
1991
Corpus ID: 32188158
A fetus with 48,XXY, + 21 was detected on routine amniocentesis at 15 weeks for advanced maternal age. Fibroblast cultures from…
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1986
1986
Mild androgen insensitivity presenting with sexual dysfunction.
Timothy F. Cundy
,
Timothy F. Cundy
,
+9 authors
Michael J. Wheeler
Fertility and Sterility
1986
Corpus ID: 19563145
1984
1984
Subpopulations of lymphocytes in maternal peripheral blood during pregnancy.
Richard T. Cheney
,
John E. Tomaszewski
,
S. Raab
,
Chester M. Zmijewski
,
David T. Rowlands
Journal of Reproductive Immunology
1984
Corpus ID: 3402239
1983
1983
The decreased growth rate of obese strain chicken thyroid cells provides in vitro evidence for a primary target organ abnormality in chickens susceptible to autoimmune thyroiditis.
J. L. Truden
,
R. Sundick
,
S. Levine
,
N. Rose
Clinical Immunology and Immunopathology
1983
Corpus ID: 13074582
1983
1983
ANDROGEN RECEPTOR CHARACTERISTICS IN SKIN FIBROBLASTS FROM MEN WITH PUBERTAL MACROMASTIA
Charles Eil
,
Marc E. Lippman
,
E. V. Moss
,
D. Loriaux
Clinical Endocrinology
1983
Corpus ID: 554891
Endocrine studies in men with pubertal macromastia (PM) have failed to reveal a hormonal abnormality to account for the disorder…
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