E-LIB Suche - Ergebnisse für: Begtrup, A

1

De novo variants in CDK13 associated with syndromic ID/DD: ..:

van den Akker, W.M.R. ; Brummelman, I. ; Martis, L.M....
Clinical Genetics. 93 (2018) 5 - p. 1000-1007 , 2018

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

2

De novo variants in KLF7 are a potential novel cause of dev..:

Powis, Z. ; Petrik, I. ; Cohen, J.S....
Clinical Genetics. 93 (2018) 5 - p. 1030-1038 , 2018

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

3

Additional de novo missense genetic variants in NALCN assoc..:

Vivero, M. ; Cho, M.T. ; Begtrup, A....
Clinical Genetics. 91 (2017) 6 - p. 929-931 , 2017

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

4

De novo loss of function mutations in KIAA2022 are associat..:

Webster, R. ; Cho, M.T. ; Retterer, K....
Clinical Genetics. 91 (2016) 5 - p. 756-763 , 2016

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

5

Predicting lower third molar eruption on panoramic radiogra..:

Begtrup, A. ; Gronastoth, H. a. ; Christensen, I. J..
The European Journal of Orthodontics. 35 (2012) 4 - p. 460-466 , 2012

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

6

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder:

Martin, Carol-Anne ; Sarlós, Kata ; Logan, Clare V....
The American Journal of Human Genetics. 111 (2024) 5 - p. 996 , 2024

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

7

Once‐weekly insulin icodec compared with daily basal insuli..:

Bajaj, Harpreet S. ; Ásbjörnsdóttir, Björg ; Bari, Tanvir J....
Diabetes, Obesity and Metabolism. 26 (2024) 9 - p. 3810-3820 , 2024

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

8

177 ClinGen Framework for PIK3CD Variant Classification: Us..:

Nieto-Patlán, Alejandro ; Worley, Lindsay ; Hankey, William...
Clinical Immunology. 262 (2024) - p. 110119 , 2024

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

9

Occupational risk of COVID-19 in foreign-born employees in ..:

Bonde, J P E ; Begtrup, L M ; Jensen, J H...
Occupational Medicine. 74 (2023) 1 - p. 63-70 , 2023

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

10

Börjeson–Forssman–Lehmann syndrome: delineating the clinica..:

Jain, Vani ; Foo, Seow Hoong ; Chooi, Stephen...
European Journal of Human Genetics. 31 (2023) 12 - p. 1421-1429 , 2023

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

11

POLR1A variants underlie phenotypic heterogeneity in cranio..:

Smallwood, Kelly ; Watt, Kristin E.N. ; Ide, Satoru...
The American Journal of Human Genetics. 110 (2023) 5 - p. 809-825 , 2023

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

12

Failure to thrive in toddlers with lack of interest in eati..:

Chatoor, Irene ; Begtrup, Rebecca ; Cheng, Iris Yao...
Frontiers in Pediatrics. 11 (2023) - p. , 2023

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

13

27.4 The Eating Behavior and Comorbidity of Children Diagno..:

Begtrup, Rebecca
Journal of the American Academy of Child & Adolescent Psychiatry. 62 (2023) 10 - p. S42 , 2023

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

14

Clinical, neuroradiological, and molecular characterization..:

Accogli, Andrea ; Lin, Sheng-Jia ; Severino, Mariasavina...
Genetics in Medicine. 25 (2023) 11 - p. 100938 , 2023

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

15

CTLA4 variant curation using adapted ACMG/AMP guidelines:

Hankey, William ; Worley, Lindsay ; Hilliard, Kyle...
Clinical Immunology. 250 (2023) - p. 109425 , 2023

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