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1 . Academic Journal
Blepharophimosis and mental retardation (BMR) phenotypes caused by chromosomal rearrangements: Description in a boy with partial trisomy 10q and monosomy 4q and review of the literature
저자
by
Bartholdi, Deborah
;
Toelle, Sandra P.
;
Steiner, Bernhard
;
Boltshauser, Eugen
;
Schinzel, Albert
, et al.
소스
In
European Journal of Medical Genetics
2008 51(2):113-123
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7 . Academic Journal
Identification of a new splice-acceptor mutation in HFM1 and functional analysis through molecular docking in nonobstructive azoospermia.
저자
by
Saebnia, Neda
;
Ebrahimzadeh-Vesal, Reza
;
Haddad-Mashhadrizeh, Aliakbar
;
Gholampour-Faroji, Nazanin
;
Schinzel, Albert
, et al.
소스
Journal of Assisted Reproduction & Genetics
. May2022, Vol. 39 Issue 5, p1195-1203. 9p.
Web of Science
Scopus
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7 . Academic Journal
Network‐based analysis using chromosomal microdeletion syndromes as a model.
저자
by
Corrêa, Thiago
;
Feltes, Bruno César
;
Schinzel, Albert
;
Riegel, Mariluce
.
소스
American Journal of Medical Genetics. Part C: Seminars in Medical Genetics; Sep2021, Vol. 187 Issue 3, p337-348, 12p
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6 . Academic Journal
Maternal uniparental disomy 14 as a cause of intrauterine growth retardation and early onset of puberty
저자
by
Fokstuen, Siv
;
Ginsburg, Claudia
;
Zachmann, Milo
;
Schinzel, Albert
.
소스
In
The Journal of Pediatrics
1999 134(6):689-695
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6 . Academic Journal
An update on ECARUCA, the European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations
저자
by
Vulto-van Silfhout, Anneke T.
;
van Ravenswaaij, Conny M.A.
;
Hehir-Kwa, Jayne Y.
;
Verwiel, Eugène T.P.
;
Dirks, Rita
, et al.
소스
In
European Journal of Medical Genetics
September 2013 56(9):471-474
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7 . Academic Journal
Small supernumerary marker chromosomes: A legacy of trisomy rescue?
저자
by
Kurtas, Nehir Edibe
;
Xumerle, Luciano
;
Leonardelli, Lorena
;
Delledonne, Massimo
;
Brusco, Alfredo
, et al.
소스
Human Mutation; Feb2019, Vol. 40 Issue 2, p193-200, 8p
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7 .
Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders
저자
by
Lowther, Chelsea
;
Mehrjouy, Mana M
;
Collins, Ryan L
;
Bak, Mads C
;
Dudchenko, Olga
, et al.
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7 . Academic Journal
Duplication of (12)(pter-q13.3) combined with deletion of (22)(pter-q11.2) in a patient with features of both chromosome aberrations
저자
by
Tyshchenko, Nataliya A.
;
Riegel, Mariluce
;
Evseenkova, Elena G.
;
Zerova, Tatjana E.
;
Gorovenko, Nataliya G.
, et al.
소스
In
European Journal of Medical Genetics
2007 50(2):128-132
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7 . Academic Journal
Low-Level Chromosomal Mosaicism in Neurodevelopmental Disorders.
저자
by
Oneda, Beatrice
;
Asadollahi, Reza
;
Azzarello-Burri, Silvia
;
Niedrist, Dunja
;
Baldinger, Rosa
, et al.
소스
Molecular Syndromology; Aug2017, Vol. 8 Issue 5, p266-271, 6p
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7 . Academic Journal
Loss-of-Function Mutations in YY1AP1 Lead to Grange Syndrome and a Fibromuscular Dysplasia-Like Vascular Disease.
저자
by
Guo, Dong-chuan
;
Duan, Xue-Yan
;
Regalado, Ellen S.
;
Mellor-Crummey, Lauren
;
Kwartler, Callie S.
, et al.
소스
American Journal of Human Genetics
. Jan2017, Vol. 100 Issue 1, p21-30. 10p.
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