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/vufind/Search/Results?lookfor=%22Schuurs-Hoeijmakers%2C+Janneke%22&type=Person&sort=year
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PubPharm (84)
1
Expanding the PRAAS spectrum : De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome
enthalten in:
American journal of human genetics
| 2024
von
van der Made, C.
|
Kersten, S.
|
Chorin, O.
| +31
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2
Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability
enthalten in:
American journal of human genetics
| 2024
von
Pérez Baca, M.
|
Jacobs, E.
|
Vantomme, L.
| +109
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3
Lifestyle Factors and Breast Cancer in Females with PTEN Hamartoma Tumor Syndrome (PHTS)
enthalten in:
Cancers
| 2024
von
Hendricks, L.
|
Verbeek, K.
|
Schuurs-Hoeijmakers, J.
| +23
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4
The heterogeneous cancer phenotype of individuals with biallelic germline pathogenic variants in CHEK2
enthalten in:
Genetics in medicine : official journal of the American College of Medical Genetics
| 2024
von
Hinić, S.
|
Cybulski, C.
|
Van der Post, R.
| +27
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5
OTULIN Haploinsufficiency-Related Fasciitis and Skin Necrosis Treated by TNF Inhibition
enthalten in:
Journal of clinical immunology
| 2023
von
Arts, R.
|
van der Linden, T.
|
van der Made, C.
| +8
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6
PhenomAD-NDD: the Phenomics Aggregation Database of comorbidities in 51,227 pediatric individuals with NeuroDevelopmental Disorders
enthalten in:
bioRxiv.org
| 2023
von
Dingemans, A.
|
Jansen, S.
|
van Reeuwijk, J.
| +15
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7
PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework
enthalten in:
Nature genetics
| 2023
von
Dingemans, A.
|
Hinne, M.
|
Truijen, K.
| +30
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8
Molecular mechanism of extracutaneous tumours in patients with basal cell nevus syndrome
enthalten in:
Journal of clinical pathology
| 2023
von
Verkouteren, B.
|
Roemen, G.
|
Schuurs-Hoeijmakers, J.
| +4
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9
Cancer risks by sex and variant type in PTEN hamartoma tumor syndrome
enthalten in:
Journal of the National Cancer Institute
| 2023
von
Hendricks, L.
|
Hoogerbrugge, N.
|
Mensenkamp, A.
| +39
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10
Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort
enthalten in:
European journal of medical genetics
| 2022
von
Hendricks, L.
|
Hoogerbrugge, N.
|
Venselaar, H.
| +36
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84
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Zeitschriftentitel
14
American journal of human genetics
9
Nature genetics
7
Journal of medical genetics
6
European journal of medical genetics
5
Genetics in medicine : official journal of the ...
5
Genome medicine
5
bioRxiv.org
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European journal of human genetics : EJHG
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American journal of medical genetics. Part A
3
Human molecular genetics
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Cell
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American Journal of Medical Genetics Part C: Se...
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1
European journal of human genetics
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Thema
49
Journal Article
33
Research Support, Non-U.S. Gov't
11
Case Reports
11
Research Support, N.I.H., Extramural
7
Transcription Factors
5
PTEN Phosphohydrolase
4
DNA-Binding Proteins
4
EC 3.1.3.67
4
PTEN protein, human
4
Vesicular Transport Proteins
3
Camptodactyly-arthropathy coxa vara-pericarditi...
3
Carrier Proteins
3
Constrictive pericarditis
3
Diagnosis
3
Evaluation Study
3
Exome sequencing
3
Genetic diagnosis
3
Hypogammaglobulinaemia
3
Juvenile idiopathic arthritis (JIA)
3
Lubricin
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Erscheinungszeitraum
30
2020-
53
2010-2019
1
2000-2009
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70
Englisch
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