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25 research outputs found

Prenatal and Postnatal Characterization of a De Novo

Author: Allen RC
Sanguinetti CJ
Tharapel AT
Publication venue: 'Mary Ann Liebert Inc'
Publication date
Field of study

Data on Families of Chromosome Translocation Carriers Ascertained Because of Habitual Spontaneous Abortion

Author: Fernhoff PM
Lindenbaum RH
Smith A.
Tharapel AT
Tho PT
Publication venue: 'Wiley'
Publication date
Field of study

Aetiology of premature ovarian failure

Author: Beck-Peccoz P
Goswami D
Hoek A
Merry DE
Sarto GE
Tharapel AT
Publication venue: 'SAGE Publications'
Publication date
Field of study

de novo Reciprocal Translocation t(6;14)(q27;q13.3) in a Child with Infantile Spasms

Author: Funderburk SJ
Lombroso CT.
Mitsudo K.
Schmidt R.
Smith A.
Tatsuno M.
Tharapel AT
Publication venue: 'Wiley'
Publication date
Field of study

Chromosome abnormalities identified in 347 spontaneous abortions collected in Japan

Author: Boue J
Craver RD
Edmonds DK
Jacobs P
Kalousek DK
Martin RH
Okuyama K
Satoh K
Takahara H
Tharapel AT
Warburton D
Publication venue: 'Wiley'
Publication date
Field of study

X;7 Translocation in an Indian Woman with Hypergonadotropic Amenorrhea—A Case Report

Author: Burgoyne PS
Causio F
Coulam C
Kalz-Fueller B
Mann JD
Sarto GE
Sauer F
Tharapel AT
Therman E
van Bakel I
Warburton D
Publication venue: 'Mary Ann Liebert Inc'
Publication date
Field of study

An Unusal Case of Hermaphroditism - A 46,XX/69,XXY Chimera

Author: Boue J
Carakushansky G
Dewald G
Ferrier P
Gouyon JB
Graham JMJ
Jenkins ME
Lejeune J
Niebuhr E
Saadi AA
Szulman AE
Tharapel AT
Wertelecki W
Wulfsberg EA
Publication venue: 'Walter de Gruyter GmbH'
Publication date
Field of study

Xq;autosome translocation in POF: Xq27.2 deletion resulting in haploinsufficiency for SPANX

Author: AT Tharapel
Beth J. Plante
CM Powell
E Therman
F Rizzolio
G Tachdjian
Guangyu Gu
JJ Yunis
Joe Leigh Simpson
John R. Pepperell
Kelly Pagidas
LM Nelson
RW Rebar
Umadevi Tantravahi
V Bertini
VA Westbrook
VA Westbrook
Wendy S. Vitek
Publication venue: 'Springer Science and Business Media LLC'
Publication date
Field of study

Chromosomal basis of recurrent fetal losses

Author: A Lippman-Hand
AC Wentz
AT Tharapel
Avirachan T. Tharapel
C Stoll
CG Palmer
DJ Harris
DN Abuelo
DN Singh
E Albertman
E Niebuhr
EB Hook
ES Sachs
F Hecht
G Khudi
IA Uchida
J Boué
J Boué
J Dewhurst
JDA Delhanty
JG Lauritsen
JL Simpson
K Soh
LS Penrose
LS Penrose
LYF Hsu
N Niikawa
NP Bishun
PA Jacobs
R. Sid Wilroy
T Hassold
T Kajii
T Kajii
T. Kajii
TJ Hassold
VGHJ Kirkels
WM Court-Brown
Publication venue: 'Springer Science and Business Media LLC'
Publication date
Field of study

Etiologic and Pathogenetic Study of Mental Retardation with Multiple Congenital Anomalies

Author: Arima M.
Bartley JB
Breg WR
Carrel RE
Cohen MM
Czeizel A.
Funderburk SJ
Kajii T.
Kajii T.
Leshima A.
Madokoro H.
Myrianthopoulos NC
Nakane Y.
Ohdo S.
Ohdo S.
Opitz JM
Opitz JM
Smith DW.
Sonoda T.
Suzuki Y.
Tharapel AT
Turner G.
Publication venue: 'Wiley'
Publication date
Field of study

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