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1 . Academic Journal
The heterogeneous cancer phenotype of individuals with biallelic germline pathogenic variants in CHEK2
저자
by
Hinić, Snežana
;
Cybulski, Cezary
;
Van der Post, Rachel S.
;
Vos, Janet R.
;
Schuurs-Hoeijmakers, Janneke
, et al.
소스
In
Genetics in Medicine
May 2024 26(5)
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7 . Academic Journal
The genomic landscape of breast and non-breast cancers from individuals with germline CHEK2 deficiency.
저자
by
Hinić, Snežana
;
Post, Rachel S van der
;
Vreede, Lilian
;
Schuurs-Hoeijmakers, Janneke
;
Koene, Saskia
, et al.
소스
JNCI Cancer Spectrum; Aug2024, Vol. 8 Issue 4, p1-5, 5p
Open Access (OUP)
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7 . Academic Journal
Clinical phenotype of FOXP1 syndrome: parent-reported medical signs and symptoms in 40 individuals.
저자
by
Koene, Saskia
;
Ropers, Fabiënne Gwendolin
;
Wieland, Jannelien
;
Rybak, Tamara
;
Wildschut, Floor
, et al.
소스
Journal of Medical Genetics; Apr2024, Vol. 61 Issue 4, p399-404, 42p
Full Text (BMJ Journals)
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7 . Academic Journal
Reanalysis of whole-exome sequencing (WES) data of children with neurodevelopmental disorders in a standard patient care context.
저자
by
van Slobbe, Michelle
;
van Haeringen, Arie
;
Vissers, Lisenka E. L. M.
;
Bijlsma, Emilia K.
;
Rutten, Julie W.
, et al.
소스
European Journal of Pediatrics
. Jan2024, Vol. 183 Issue 1, p345-355. 11p.
Web of Science
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7 . Academic Journal
Using PRPP‐Assessment for measuring change in everyday activities by home‐based videos: An exploratory case series study in children with multiple disabilities.
저자
by
Rothuizen‐Lindenschot, Marieke
;
Graff, Maud J. L.
;
de Boer, Lonneke
;
de Groot, Imelda J. M.
;
Nijhuis‐van der Sanden, Maria W. G.
, et al.
소스
Australian Occupational Therapy Journal
. Dec2023, Vol. 70 Issue 6, p644-660. 17p.
Web of Science
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7 . Academic Journal
DNMT3A overgrowth syndrome is associated with the development of hematopoietic malignancies in children and young adults
저자
by
Ferris, Margaret A.
;
Smith, Amanda M.
;
Heath, Sharon E.
;
Duncavage, Eric J.
;
Oberley, Matthew
, et al.
소스
In
Blood
20 January 2022 139(3):461-464
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7 . Academic Journal
The reliability and validity of the perceive, recall, plan and perform assessment in children with a mitochondrial disorder.
저자
by
Lindenschot, Marieke
;
Koene, Saskia
;
Nott, Melissa T.
;
Nijhuis-van der Sanden, Maria W. G.
;
de Groot, Imelda J. M.
, et al.
소스
Disability & Rehabilitation
. Jul2023, Vol. 45 Issue 14, p2354-2367. 14p.
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7 . Academic Journal
Diagnostic Gene Panel Testing in (Non)-Syndromic Patients with Cleft Lip, Alveolus and/or Palate in the Netherlands.
저자
by
Wurfbain, Lisca Florence
;
Cox, Inge Lucia
;
van Dooren, Maria Francisca
;
Lachmeijer, Augusta Maria Antonia
;
Verhoeven, Virginie Johanna Maria
, et al.
소스
Molecular Syndromology; 2023, Vol. 14 Issue 4, p270-282, 13p
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7 . Academic Journal
Tailored interviewing to uncover the perspectives of children with multiple disabilities on daily activities: A qualitative analyses of interview methods and interviewer skills.
저자
by
Steultjens, Esther
;
Lindenschot, Marieke
;
Diepeveen, Sanne
;
Zajec, Jana
;
de Groot, Imelda
, et al.
소스
Australian Occupational Therapy Journal
. Apr2023, Vol. 70 Issue 2, p175-189. 15p.
Web of Science
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7 . Academic Journal
Perceive, Recall, Plan and Perform (PRPP)-Assessment Based on Parent-Provided Videos of Children with Mitochondrial Disorder: Action Design Research on Implementation Challenges.
저자
by
Lindenschot, Marieke
;
Groot, Imelda J.M.de
;
Nijhuis-van der Sanden, Maria W.G.
;
Steultjens, Esther M.J.
;
Graff, Maud J.L.
, et al.
소스
Physical & Occupational Therapy in Pediatrics
. 2023, Vol. 43 Issue 1, p74-92. 19p.
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