E-LIB Suche - Ergebnisse für: Jeroen Breckpot

1

Genetic Spectrum and Clinical Characteristics of Patients w..:

Rodriguez Mier, Noelia ; Jaspers, Martine ; Van Hoof, Evelien...
Lung. 202 (2024) 3 - p. 291-298 , 2024

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

2

Differential alternative splicing analysis links variation ..:

Hannes, Laurens ; Atzori, Marta ; Goldenberg, Alice...
Genetics in Medicine. 26 (2024) 4 - p. 101059 , 2024

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

3

Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrom..:

Freud, Lindsay R. ; Galloway, Stephanie ; Crowley, T. Blaine...
American Journal of Obstetrics and Gynecology. 230 (2024) 3 - p. 368.e1-368.e12 , 2024

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

4

Clinical exome sequencing efficacy and phenotypic expansion..:

Huth, Emily A. ; Zhao, Xiaonan ; Owen, Nichole...
European Journal of Human Genetics. 31 (2023) 12 - p. 1430-1439 , 2023

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

5

Prenatal Screening and Diagnostic Considerations for 22q11...:

Blagowidow, Natalie ; Nowakowska, Beata ; Schindewolf, Erica...
Genes. 14 (2023) 1 - p. 160 , 2023

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

6

Tools to differentiate between Filamin C and Titin truncati..:

Jacobs, Johanna ; Van Aelst, Lucas ; Breckpot, Jeroen...
European Journal of Human Genetics. 31 (2023) 11 - p. 1323-1332 , 2023

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

7

Chromatin regulators in the TBX1 network confer risk for co..:

Zhao, Yingjie ; Wang, Yujue ; Shi, Lijie...
npj Genomic Medicine. 8 (2023) 1 - p. , 2023

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

8

Biallelic mutations in the CFHR genes underlying atypical h..:

Dillemans, Luna ; Bekhuis, Youri ; Betrains, Albrecht...
Clinical Immunology. 257 (2023) - p. 109815 , 2023

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

9

Triplications of chromosome 1p36.3, including the genes GAB..:

Pelgrims, Elise ; Lynch, Sally Ann ; Hannes, Laurens...
American Journal of Medical Genetics Part A. 191 (2023) 7 - p. 1889-1899 , 2023

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

10

Cell-free DNA methylome analysis for early preeclampsia pre..:

De Borre, Marie ; Che, Huiwen ; Yu, Qian...
Nature Medicine. 29 (2023) 9 - p. 2206-2215 , 2023

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

11

Individualized QT interval (QTi) is a powerful diagnostic t..:

Robyns, Tomas ; Nuyens, Dieter ; Vandenberk, Bert...
Frontiers in Cardiovascular Medicine. 10 (2023) - p. , 2023

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

12

Language Profiles of School-Aged Children with 22q11.2 Copy..:

Verbesselt, Jente ; Solot, Cynthia B. ; Van Den Heuvel, Ellen...
Genes. 14 (2023) 3 - p. 679 , 2023

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

13

Loss-of-function variants in exon 4 of TAB2 cause a recogni..:

Micale, Lucia ; Morlino, Silvia ; Carbone, Annalucia...
Genetics in Medicine. 24 (2022) 2 - p. 439-453 , 2022

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

14

Proceedings of the 13th International Newborn Brain Confere..:

Abdi, Khadar ; Abramsky, Ramy ; Andescavage, Nickie...
Journal of Neonatal-Perinatal Medicine. 15 (2022) 2 - p. 411-426 , 2022

Link: https://doi.org/10.3233/..

15

European Heart Rhythm Association (EHRA)/Heart Rhythm Socie..:

Wilde, Arthur A. M. ; Semsarian, Christopher ; Márquez, Manlio F....
Journal of Arrhythmia. 38 (2022) 4 - p. 491-553 , 2022

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