E-LIB Suche - Ergebnisse für: Schuurs‐Hoeijmakers, Janneke H. M.

1

Histopathological phenotyping of cancers in PTEN Hamartoma ..:

Schei‐Andersen, Ane J. ; Hendricks, Linda A. J. ; van der Post, Rachel S....
International Journal of Cancer. , 2024

2

Beyond nephronophthisis: Retinal dystrophy in the absence o..:

Veldman, Bram C. F. ; Kuper, Willemijn F. E. ; Lilien, Marc...
American Journal of Medical Genetics Part A. 185 (2021) 7 - p. 2204-2210 , 2021

Link: https://doi.org/10.1002/..

3

A review on age‐related cancer risks in PTEN hamartoma tumo..:

Hendricks, Linda A.J. ; Hoogerbrugge, Nicoline ; Schuurs‐Hoeijmakers, Janneke H.M..
Clinical Genetics. 99 (2020) 2 - p. 219-225 , 2020

Link: https://doi.org/10.1111/..

4

Clinical delineation of the PACS1‐related syndrome—Report o..:

Schuurs‐Hoeijmakers, Janneke H. M. ; Landsverk, Megan L. ; Foulds, Nicola...
American Journal of Medical Genetics Part A. 170 (2016) 3 - p. 670-675 , 2016

Link: https://doi.org/10.1002/..

5

Recurrent deletion of ZNF630 at Xp11.23 is not associated w..:

Lugtenberg, Dorien ; Zangrande‐Vieira, Luiz ; Kirchhoff, Maria...
American Journal of Medical Genetics Part A. 152A (2010) 3 - p. 638-645 , 2010

Link: https://doi.org/10.1002/..

6

Exome sequencing in routine diagnostics: A generic test for..:

Arts, P. (Peer) ; Simons, A. (Annet) ; Alzahrani, M.S. (Mofareh S.)...
http://repub.eur.nl/pub/117385. , 2019

Link: http://repub.eur.nl/pub/..

7

Expanding the PRAAS spectrum: De novo mutations of immunopr..:

van der Made, Caspar I. ; Kersten, Simone ; Chorin, Odelia...
The American Journal of Human Genetics. 111 (2024) 4 - p. 791-804 , 2024

Link: https://doi.org/10.1016/..

8

Lifestyle Factors and Breast Cancer in Females with PTEN Ha..:

Hendricks, Linda A. J. ; Verbeek, Katja C. J. ; Schuurs-Hoeijmakers, Janneke H. M....
Cancers. 16 (2024) 5 - p. 953 , 2024

Link: https://doi.org/10.3390/..

9

Exploring the Prevalence of Oral Features for Early Detecti..:

Schei-Andersen, Ane J. ; van Oirschot, Bart ; Drissen, Meggie M.C.M....
International Dental Journal. , 2024

Link: https://doi.org/10.1016/..

10

Increased frequency of infections and autoimmune disease in..:

Drissen, Meggie M.C.M. ; Vos, Janet R. ; Collado Camps, Estel...
European Journal of Medical Genetics. 70 (2024) - p. 104960 , 2024

Link: https://doi.org/10.1016/..

11

OTULIN Haploinsufficiency-Related Fasciitis and Skin Necros..:

Arts, Rob J. W. ; van der Linden, Tristan J. ; van der Made, Caspar I....
Journal of Clinical Immunology. 44 (2023) 1 - p. , 2023

Link: https://doi.org/10.1007/..

12

Genotype-phenotype associations in a large PTEN Hamartoma T..:

Hendricks, Linda A.J. ; Hoogerbrugge, Nicoline ; Venselaar, Hanka...
European Journal of Medical Genetics. 65 (2022) 12 - p. 104632 , 2022

Link: https://doi.org/10.1016/..

13

Red flags for early recognition of adult patients with PTEN..:

Drissen, Meggie M.C.M. ; Schieving, Jolanda H. ; Schuurs-Hoeijmakers, Janneke H.M...
European Journal of Medical Genetics. 64 (2021) 12 - p. 104364 , 2021

Link: https://doi.org/10.1016/..

14

Biallelic variants in TMEM222 cause a new autosomal recessi..:

Polla, Daniel L. ; Farazi Fard, Mohammad Ali ; Tabatabaei, Zahra...
Genetics in Medicine. 23 (2021) 7 - p. 1246-1254 , 2021

Link: https://doi.org/10.1038/..

15

Quadrupedal gait and cerebellar hypoplasia, the Uner Tan sy..:

Raslan, Ivana Rocha ; França Jr., Marcondes Cavalcante ; Oliveira, João Bosco...
Parkinsonism & Related Disorders. 92 (2021) - p. 33-35 , 2021

Link: https://doi.org/10.1016/..