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1 . Academic Journal
Lifestyle Factors and Breast Cancer in Females with PTEN Hamartoma Tumor Syndrome (PHTS).
저자
by
Hendricks, Linda A. J.
;
Verbeek, Katja C. J.
;
Schuurs-Hoeijmakers, Janneke H. M.
;
Mensenkamp, Arjen R.
;
Brems, Hilde
, et al.
소스
Cancers
. Mar2024, Vol. 16 Issue 5, p953. 10p.
Scopus
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7 . Academic Journal
OTULIN Haploinsufficiency-Related Fasciitis and Skin Necrosis Treated by TNF Inhibition.
저자
by
Arts, Rob J. W.
;
van der Linden, Tristan J.
;
van der Made, Caspar I.
;
Hendriks, Marianne M. C.
;
van der Heijden, Wouter A.
, et al.
소스
Journal of Clinical Immunology
. Jan2024, Vol. 44 Issue 1, p1-5. 5p.
Scopus
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7 . Academic Journal
Molecular mechanism of extracutaneous tumours in patients with basal cell nevus syndrome.
저자
by
Verkouteren, Babette J. A.
;
Roemen, Guido M. J. M.
;
Schuurs-Hoeijmakers, Janneke H. M.
;
Hamid, Myrurgia Abdul
;
van Geel, Michel
, et al.
소스
Journal of Clinical Pathology; May2023, Vol. 76 Issue 5, p345-348, 4p
Full Text (BMJ Journals)
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7 . Academic Journal
Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study.
저자
by
Hebert, Anne
;
Simons, Annet
;
Schuurs-Hoeijmakers, Janneke H. M.
;
Koenen, Hans J. P. M.
;
Zonneveld-Huijssoon, Evelien
, et al.
소스
eLife
. 11/4/2022, p1-24. 24p.
Scopus
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7 . Academic Journal
Beyond nephronophthisis: Retinal dystrophy in the absence of kidney dysfunction in childhood expands the clinical spectrum of CEP83 deficiency.
저자
by
Veldman, Bram C. F.
;
Kuper, Willemijn F. E.
;
Lilien, Marc
;
Schuurs‐Hoeijmakers, Janneke H. M.
;
Marcelis, Carlo
, et al.
소스
American Journal of Medical Genetics. Part A; Jul2021, Vol. 185 Issue 7, p2204-2210, 7p
Scopus
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7 . Academic Journal
Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder
저자
by
Polla, Daniel L.
;
Farazi Fard, Mohammad Ali
;
Tabatabaei, Zahra
;
Habibzadeh, Parham
;
Levchenko, Olga A.
, et al.
소스
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics
. 23(7):1246-1254
Full Text (ScienceDirect)
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7 . Academic Journal
Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disorders
저자
by
van der Donk, Roos
;
Jansen, Sandra
;
Schuurs-Hoeijmakers, Janneke H. M.
;
Koolen, David A.
;
Goltstein, Lia C. M. J.
, et al.
소스
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics
. 21(8):1719-1725
Full Text (ScienceDirect)
Full Text (ScienceDirect O/A)
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7 . Academic Journal
A review on age-related cancer risks in PTEN hamartoma tumor syndrome
저자
by
Hendricks, Linda A. J.
;
Hoogerbrugge, Nicoline
;
Schuurs-Hoeijmakers, Janneke H. M.
;
Vos, Janet R.
.
소스
CLINICAL GENETICS
; NOV 16 2020, 7p.
Scopus
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6 . Academic Journal
Clinical delineation of the PACS1-related syndrome—Report on 19 patients
저자
by
Schuurs-Hoeijmakers, Janneke H. M.
;
Landsverk, Megan L.
;
Foulds, Nicola
;
Kukolich, Mary K.
;
Gavrilova, Ralitza H.
, et al.
소스
American Journal Of Medical Genetics - A
. Mar 01, 2016 170(3):670-675
Scopus
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7 . Academic Journal
Protein-losing enteropathy in camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome.
저자
by
Peters, Bram
;
Schuurs-Hoeijmakers, Janneke H. M.
;
Fuijkschot, Joris
;
Reimer, Annette
;
van der Flier, Michiel
, et al.
소스
Pediatric Rheumatology
. 5/25/2016, Vol. 14, p1-6. 6p.
Open Access (BioMed Central)
Scopus
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