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1 . Academic Journal
The predictive value of primary tumor location in patients with metastatic colorectal cancer: A systematic review
저자
by
Boeckx, Nele
;
Janssens, Katleen
;
Van Camp, Guy
;
Rasschaert, Marika
;
Papadimitriou, Konstantinos
, et al.
소스
In
Critical Reviews in Oncology / Hematology
January 2018 121:1-10
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7 . Academic Journal
RUNX2‐related metaphyseal dysplasia with maxillary hypoplasia: A rare skeletal disorder resembling SFRP4‐related Pyle disease.
저자
by
Hordyjewska‐Kowalczyk, Ewa
;
Wuyts, Wim
;
Boeckx, Nele
;
Verdonck, An
;
Hendrickx, Gretl
, et al.
소스
Clinical Genetics
. Apr2024, Vol. 105 Issue 4, p434-439. 6p.
Web of Science
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7 . Academic Journal
Homozygous SMAD6 variants in two unrelated patients with craniosynostosis and radioulnar synostosis.
저자
by
Luyckx, Ilse
;
Walton, Isaac Scott
;
Boeckx, Nele
;
Van Schil, Kristof
;
Chingyiu Pang
, et al.
소스
Journal of Medical Genetics; Apr2024, Vol. 61 Issue 4, p363-368, 13p
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7 . Academic Journal
Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome.
저자
by
Meester, Josephina A. N.
;
Hebert, Anne
;
Bastiaansen, Maaike
;
Rabaut, Laura
;
Bastianen, Jarl
, et al.
소스
NPJ Genomic Medicine; 3/26/2024, Vol. 9 Issue 1, p1-9, 9p
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7 . Periodical
Homozygous SMAD6variants in two unrelated patients with craniosynostosis and radioulnar synostosis
저자
by
Luyckx, Ilse
;
Walton, Isaac Scott
;
Boeckx, Nele
;
Van Schil, Kristof
;
Pang, Chingyiu
, et al.
소스
Journal of Medical Genetics (JMG); 2024, Vol. 61 Issue: 4 p363-368, 6p
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7 . Academic Journal
Heterozygous pathogenic variants involving CBFB cause a new skeletal disorder resembling cleidocranial dysplasia.
저자
by
Beyltjens, Tessi
;
Boudin, Eveline
;
Revencu, Nicole
;
Boeckx, Nele
;
Bertrand, Miriam
, et al.
소스
Journal of Medical Genetics; May2023, Vol. 60 Issue 5, p498-504, 9p
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7 . Academic Journal
Implementation of Exome Sequencing in Prenatal Diagnostics: Chances and Challenges.
저자
by
Janicki, Ewa
;
De Rademaeker, Marjan
;
Meunier, Colombine
;
Boeckx, Nele
;
Blaumeiser, Bettina
, et al.
소스
Diagnostics (2075-4418)
. Mar2023, Vol. 13 Issue 5, p860. 11p.
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7 . Academic Journal
Isolated aneurysmal disease as an underestimated finding in individuals with JAG1 pathogenic variants.
저자
by
Rodrigues Bento, Jotte
;
Krebsová, Alice
;
Van Gucht, Ilse
;
Valdivia Callejon, Irene
;
Van Berendoncks, An
, et al.
소스
Human Mutation; Dec2022, Vol. 43 Issue 12, p1824-1828, 5p
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7 . Periodical
Genetic association analysis of 77,539 genomes reveals rare disease etiologies
저자
by
Greene, Daniel
;
Pirri, Daniela
;
Frudd, Karen
;
Sackey, Ege
;
Al-Owain, Mohammed
, et al.
소스
Nature Medicine; March 2023, Vol. 29 Issue: 3 p679-688, 10p
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7 . Periodical
Heterozygous pathogenic variants involving CBFBcause a new skeletal disorder resembling cleidocranial dysplasia
저자
by
Beyltjens, Tessi
;
Boudin, Eveline
;
Revencu, Nicole
;
Boeckx, Nele
;
Bertrand, Miriam
, et al.
소스
Journal of Medical Genetics (JMG); 2023, Vol. 60 Issue: 5 p498-504, 7p
Full Text (BMJ Journals)
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