E-LIB Suche - Ergebnisse für: Vossaert, Liesbeth

1

Cover:

German, Ryan J. ; Vuocolo, Blake ; Vossaert, Liesbeth...
Molecular Genetics & Genomic Medicine. 12 (2024) 2 - p. , 2024

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

2

P871: Genetic insight, social impact: Transforming care thr..:

Brooks, Dan ; Mizerik, Elizabeth ; Vossaert, Liesbeth...
Genetics in Medicine Open. 2 (2024) - p. 101785 , 2024

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

3

P297: More than an extra chromosome: Unexpected multiple di..:

Vossaert, Liesbeth ; Owen, Nichole ; Dai, Hongzheng...
Genetics in Medicine Open. 2 (2024) - p. 101193 , 2024

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

4

P700: Heterozygous deletion of valine at position 2321 of R..:

Kao, Eric ; Mizerik, Elizabeth ; Ben Moshe, Yishay..
Genetics in Medicine Open. 2 (2024) - p. 101604 , 2024

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

5

Novel hemizygous single‐nucleotide duplication in RPGR in a..:

German, Ryan J. ; Vuocolo, Blake ; Vossaert, Liesbeth...
Molecular Genetics & Genomic Medicine. 12 (2024) 2 - p. , 2024

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

6

P682: Phenotype expansion or multilocus variants? Additiona..:

Saeidian, Amir Hossein ; Vossaert, Liesbeth ; Mizerik, Elizabeth...
Genetics in Medicine Open. 2 (2024) - p. 101586 , 2024

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

7

P495: Improving access to exome sequencing in medically und..:

Vuocolo, Blake ; German, Ryan ; Bacino, Carlos...
Genetics in Medicine Open. 2 (2024) - p. 101394 , 2024

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

8

P593: Detection of single-gene copy-number variations throu..:

Kin Chau, Matthew Hoi ; Anderson, Stephanie ; Song, Rodger...
Genetics in Medicine Open. 2 (2024) - p. 101499 , 2024

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

9

Clinical exome sequencing uncovers genetic disorders in neo..:

Parobek, Christian M. ; Zemet, Roni ; Shanahan, Matthew A....
Clinical Genetics. 106 (2024) 1 - p. 95-101 , 2024

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

10

P703: Pathogenic ZIC2 polyalanine expansion detected by exo..:

Owen, Nichole ; Vossaert, Liesbeth ; Potocki, Lorraine.
Genetics in Medicine Open. 2 (2024) - p. 101607 , 2024

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

11

692 Genetic findings among neonates with perinatal hypoxic-..:

Parobek, Christian M. ; Shanahan, Matthew A. ; Lazar, Roni Zemet...
American Journal of Obstetrics and Gynecology. 230 (2024) 1 - p. S371 , 2024

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

12

Precision therapy for a medically actionable ATP1A3 variant..:

Ford, Cara P. ; Littlejohn, Rebecca O. ; German, Ryan...
Molecular Genetics & Genomic Medicine. 11 (2023) 12 - p. , 2023

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

13

Evaluation of an automated genome interpretation model for ..:

Meng, Linyan ; Attali, Ruben ; Talmy, Tomer...
Genetics in Medicine. 25 (2023) 6 - p. 100830 , 2023

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

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Contributors:

, In: Human Reproductive and Prenatal Genetics,

Aggarwal, Vimla ; Barber, T.M. ; Becker, Christian M.... - p. xiii-xix , 2023

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

15

A familial deletion of 10p12.1 associated with thrombocytop..:

Manohar, Sujal ; Gofin, Yoel ; Streff, Haley...
American Journal of Medical Genetics Part A. 194 (2023) 1 - p. 77-81 , 2023

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