E-LIB Suche - Ergebnisse für: Kattentidt-Mouravieva, AA

1

Mutation-specific pathophysiological mechanisms define diff..:

den Hoed, J ; de Boer, E ; Voisin, N...
doi:10.1016/j.ajhg.2021.01.007. , 2021

2

Missed diagnoses and health problems in adults with prader-..:

Pellikaan, Karlijn ; Rosenberg, AGW ; Kattentidt-Mouravieva, AA...
Pellikaan , K , Rosenberg , AGW , Kattentidt-Mouravieva , AA , Kersseboom , R , Bos-Roubos , AG , Veen-Roelofs , JMC , van Aalst - van Wieringen , N , Hoekstra , FME , van den Berg , S , van der Lely , AJ & de Graaff , L 2020 , ' Missed diagnoses and health problems in adults with prader-willi syndrome: Recommendations for screening and treatment ' , Journal of Clinical Endocrinology and Metabolism , vol. 105 , no. 12 , dgaa621 . https://doi.org/10.1210/clinem/dgaa621. , 2020

Link: https://pure.eur.nl/en/p..

3

Intrafamilial variability in SLC6A1-related neurodevelopmen..:

Kassabian, Benedetta ; Fenger, Christina Dühring ; Willems, Marjolaine...
Frontiers in Neuroscience. 17 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

4

Corrigendum: Intrafamilial variability in SLC6A1-related ne..:

Kassabian, Benedetta ; Fenger, Christina Dühring ; Willems, Marjolaine...
Frontiers in Neuroscience. 17 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

5

The phenotypic presentation of adult individuals with SLC6A..:

Johannesen, Katrine M. ; Nielsen, Jimmi ; Sabers, Anne...
Frontiers in Neuroscience. 17 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

6

Effects of Childhood Multidisciplinary Care and Growth Horm..:

Pellikaan, Karlijn ; Rosenberg, Anna G. W. ; Davidse, Kirsten...
Journal of Clinical Medicine. 10 (2021) 15 - p. 3250 , 2021

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

7

Functional and structural analyses of novel Smith-Kingsmore..:

Besterman, Aaron D. ; Althoff, Thorsten ; Elfferich, Peter...
PLOS Genetics. 17 (2021) 7 - p. e1009651 , 2021

Link: https://doi.org/10.1371/..

8

What Every Internist-Endocrinologist Should Know about Rare..:

Rosenberg, Anna G. W. ; Pater, Minke R. A. ; Pellikaan, Karlijn...
Journal of Clinical Medicine. 10 (2021) 22 - p. 5457 , 2021

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

9

What Every Internist Should Know About Rare Genetic Syndrom..:

Rosenberg, Anna G W ; Pater, Minke R A ; Davidse, Kirsten...
Journal of the Endocrine Society. 5 (2021) Supplement_1 - p. A513-A514 , 2021

Link: https://doi.org/10.1210/..

10

Missed Diagnoses and Health Problems in Adults With Prader-..:

Pellikaan, Karlijn ; Rosenberg, Anna G W ; Kattentidt-Mouravieva, Anja A...
The Journal of Clinical Endocrinology & Metabolism. 105 (2020) 12 - p. e4671-e4687 , 2020

Link: https://doi.org/10.1210/..

11

Disruption of HNF1α binding site causes inherited severe un..:

van Dijk, Remco ; Mayayo-Peralta, Isabel ; Aronson, Sem J....
Journal of Hepatology. 63 (2015) 6 - p. 1525-1529 , 2015

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

12

How harmful is genetic testing for familial adenomatous pol..:

Kattentidt-Mouravieva, Anna A. ; den Heijer, M. ; van Kessel, I..
Familial Cancer. 13 (2014) 3 - p. 391-399 , 2014

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

13

Diagnostic serum glycosylation profile in patients with int..:

Van Scherpenzeel, Monique ; Timal, Sharita ; Rymen, Daisy...
Brain. 137 (2014) 4 - p. 1030-1038 , 2014

Link: https://doi.org/10.1093/..

14

Identification of Familial Adenomatous Polyposis carriers a..:

Kattentidt Mouravieva, Anna A. ; Geurts-Giele, Ina R.R. ; de Krijger, Ronald R....
European Journal of Cancer. 48 (2012) 12 - p. 1867-1874 , 2012

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