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1 . Academic Journal
Spleen function is reduced in individuals with NR5A1 variants with or without a difference of sex development: a cross-sectional study.
저자
by
Cools, Martine
;
Grijp, Celien
;
Neirinck, Jana
;
Tavernier, Simon J
;
Schelstraete, Petra
, et al.
소스
European Journal of Endocrinology
. Jan2024, Vol. 190 Issue 1, p34-43. 10p.
Full Text (OUP)
Web of Science
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7 . Academic Journal
Complete androgen insensitivity syndrome: factors influencing gonadal histology including germ cell pathology
저자
by
Kaprova-Pleskacova, Jana
;
Stoop, Hans
;
Brüggenwirth, Hennie
;
Cools, Martine
;
Wolffenbuttel, Katja P
, et al.
소스
In
Modern Pathology
May 2014 27(5):721-730
Full Text (ScienceDirect)
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7 . Academic Journal
Prevalence of Monogenic Bone Disorders in a Dutch Cohort of Atypical Femur Fracture Patients.
저자
by
Wei Zhou
;
van Rooij, Jeroen GJ
;
van de Laarschot, Denise M.
;
Zervou, Zografia
;
Bruggenwirth, Hennie
, et al.
소스
Journal of Bone & Mineral Research; Jun2023, Vol. 38 Issue 6, p896-906, 11p
Full Text (OUP)
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7 . Academic Journal
A novel UBE3A sequence variant identified in eight related individuals with neurodevelopmental delay, results in a phenotype which does not match the clinical criteria of Angelman syndrome.
저자
by
Geerts‐Haages, Amber
;
Bossuyt, Stijn N. V.
;
Besten, Inge
;
Bruggenwirth, Hennie
;
Burgt, Ineke
, et al.
소스
Molecular Genetics & Genomic Medicine
. Nov2020, Vol. 8 Issue 11, p1-12. 12p.
Open Access (Wiley)
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7 .
Clinical aspects of a large group of adults with Angelman syndrome
저자
by
Besten, Ilse
;
Jong, Rianne
;
Geerts-Haages, A
;
Brüggenwirth, Hennie
;
Koopmans, M
, et al.
소스
American Journal of Medical Genetics, Part A, 185(1), 168-181. Wiley-Liss Inc.
American Journal of Medical Genetics. Part a
Open Access (OpenAIRE)
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7 . Academic Journal
First genetic analysis of aneurysm genes in familial and sporadic abdominal aortic aneurysm.
저자
by
Luijtgaarden, Koen
;
Heijsman, Daphne
;
Maugeri, Alessandra
;
Weiss, Marjan
;
Verhagen, Hence
, et al.
소스
Human Genetics
. Aug2015, Vol. 134 Issue 8, p881-893. 13p.
Web of Science
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7 . Academic Journal
Gene expression profiling assignsCHEK2 1100delC breast cancers to the luminal intrinsic subtypes
저자
by
Nagel, Jord H. A.
;
Peeters, Justine K.
;
Smid, Marcel
;
Sieuwerts, Anieta M.
;
Wasielewski, Marijke
, et al.
소스
Breast Cancer Research and Treatment
. Apr 01, 2012 132(2):439-448
Full Text (Springer)
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7 . Academic Journal
Gene expression profiling assigns CHEK2 1100delC breast cancers to the luminal intrinsic subtypes.
저자
by
Nagel, Jord
;
Peeters, Justine
;
Smid, Marcel
;
Sieuwerts, Anieta
;
Wasielewski, Marijke
, et al.
소스
Breast Cancer Research & Treatment; Apr2012, Vol. 132 Issue 2, p439-448, 10p
Full Text (Springer)
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7 . Academic Journal
Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype.
저자
by
Valstar, Marlies
;
Bruggenwirth, Hennie
;
Olmer, Renske
;
Wevers, Ron
;
Verheijen, Frans
, et al.
소스
Journal of Inherited Metabolic Disease; Dec2010, Vol. 33 Issue 6, p759-767, 9p
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7 . Academic Journal
A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting.
저자
by
Hout, Annemarie H. van der
;
Ouweland, Ans M.W. van den
;
Luijt, Rob B. van der
;
Gille, Hans J.P.
;
Bodmer, Daniëlle
, et al.
소스
Human Mutation; Jul2006, Vol. 27 Issue 7, p654-666, 13p
Web of Science
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