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1 . Academic Journal
Adams–Oliver syndrome caused by mutations of the EOGT gene.
저자
by
Schröder, Kim C.
;
Duman, Duygu
;
Tekin, Mustafa
;
Schanze, Denny
;
Sukalo, Maja
, et al.
소스
American Journal of Medical Genetics. Part A; Nov2019, Vol. 179 Issue 11, p2246-2251, 6p
Web of Science
Scopus
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7 . Academic Journal
Elucidating the genetic architecture of Adams–Oliver syndrome in a large European cohort.
저자
by
Meester, Josephina A. N.
;
Sukalo, Maja
;
Schröder, Kim C.
;
Schanze, Denny
;
Baynam, Gareth
, et al.
소스
Human Mutation; Sep2018, Vol. 39 Issue 9, p1246-1261, 16p
Web of Science
Scopus
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7 . Academic Journal
Expanding the mutational spectrum in Johanson-Blizzard syndrome: identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation-dependent probe amplification analysis.
저자
by
Sukalo, Maja
;
Schäflein, Eva
;
Schanze, Ina
;
Everman, David B.
;
Rezaei, Nima
, et al.
소스
Molecular Genetics & Genomic Medicine
. Nov2017, Vol. 5 Issue 6, p774-780. 7p.
Open Access (Wiley)
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7 . Academic Journal
Oblique facial clefts in Johanson–Blizzard syndrome
저자
by
Corona-Rivera, Jorge Román
;
Zapata-Aldana, Eugenio
;
Bobadilla-Morales, Lucina
;
Corona-Rivera, Alfredo
;
Peña-Padilla, Christian
, et al.
소스
American Journal Of Medical Genetics - A
. Jun 01, 2016 170(6):1495-1501
Web of Science
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7 . Academic Journal
Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies.
저자
by
Southgate, Laura
;
Sukalo, Maja
;
Karountzos, Anastasios S. V.
;
Taylor, Edward J.
;
Collinson, Claire S.
, et al.
소스
Circulation: Cardiovascular Genetics; Aug2015, Vol. 8 Issue 4, p572-581, 10p
Full Text (LWW)
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7 . Academic Journal
DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams–Oliver Syndrome Associated with Brain and Eye Anomalies
저자
by
Sukalo, Maja
;
Tilsen, Felix
;
Kayserili, Hülya
;
Müller, Dietmar
;
Tüysüz, Beyhan
, et al.
소스
Human Mutation
. Jun 01, 2015 36(6):593-598
Web of Science
Scopus
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7 . Academic Journal
Mutations in the Human UBR1 Gene and the Associated Phenotypic Spectrum
저자
by
Sukalo, Maja
;
Fiedler, Ariane
;
Guzmán, Celina
;
Spranger, Stephanie
;
Addor, Marie-Claude
, et al.
소스
Human Mutation
. May 01, 2014 35(5):521-531
Web of Science
Scopus
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7 . Academic Journal
Novel Ubiquitin Protein Ligase E3 Component N-Recognin 1 Gene Mutation in Johanson-Blizzard Syndrome: Development of Hypothyroidism during Infancy.
저자
by
Celik, Muhittin
;
Bulbul, Ali
;
Kirbiyik, Özgür
;
Kesim, Belgin
;
Uslu, Sinan
, et al.
소스
Journal of Clinical Neonatology
. Jul-Sep2017, Vol. 6 Issue 3, p179-181. 3p.
JCR 저널정보
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7 . Academic Journal
Ubiquitin Ligases of the N-End Rule Pathway: Assessment of Mutations in UBR1 That Cause the Johanson-Blizzard Syndrome.
저자
by
Cheol-Sang Hwang
;
Sukalo, Maja
;
Batygin, Olga
;
Addor, Marie-Claude
;
Brunner, Han
, et al.
소스
PLoS ONE
. 2011, Vol. 6 Issue 9, p1-10. 10p.
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7 . Academic Journal
Two novel UBR1 gene mutations ın a patient with Johanson Blizzard Syndrome: A mild phenotype without mental retardation.
저자
by
Atik, Tahir
;
Karakoyun, Miray
;
Sukalo, Maja
;
Zenker, Martin
;
Ozkinay, Ferda
, et al.
소스
Gene
. Oct2015, Vol. 570 Issue 1, p153-155. 3p.
Full Text (ScienceDirect)
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