E-LIB Suche - Ergebnisse für: Mizerik, Elizabeth

1

P050: Biallelic variants in POLG2 provides a rare molecular..:

Rossi, Vittoria ; Brooks, Dan ; Dai, Hongzheng...
Genetics in Medicine Open. 2 (2024) - p. 100927 , 2024

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

2

P381: Rare mechanisms causing UPD(14)pat and UPD(14)mat:

Waskow, Emily ; Mizerik, Elizabeth ; Owen, Nichole...
Genetics in Medicine Open. 2 (2024) - p. 101275 , 2024

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

3

P287: Familial testing allows reclassification of CCDC22 va..:

Rose, Chelsi ; Mizerik, Elizabeth ; Owen, Nichole...
Genetics in Medicine Open. 2 (2024) - p. 101183 , 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

P668: PMP22 single exon deletion in a proband with hematolo..:

Schulze, Katharina ; Kin Chau, Matthew Hoi ; Dai, Hongzheng...
Genetics in Medicine Open. 2 (2024) - p. 101573 , 2024

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

6

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/..

7

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/..

8

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/..

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

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/..

11

P701: Novel presentation of dextrocardia in TGIF1-related h..:

Thornton, Casey ; Owen, Nichole ; Mizerik, Elizabeth...
Genetics in Medicine Open. 2 (2024) - p. 101605 , 2024

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

12

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/..

13

P533: Meeting the increasing need for inpatient genetics se..:

Mizerik, Elizabeth ; Waskow, Emily
Genetics in Medicine Open. 2 (2024) - p. 101432 , 2024

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

14

Intracranial calcifications simulating Aicardi‐Goutières sy..:

Gerard, Amanda ; Mizerik, Elizabeth ; Mohila, Carrie A....
American Journal of Medical Genetics Part A. 194 (2024) 7 - p. , 2024

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

15

Expanded clinical phenotype and untargeted metabolomics ana..:

Walimbe, Ameya S. ; Machol, Keren ; Kralik, Stephen F....
BMC Neurology. 24 (2024) 1 - p. , 2024

Link: https://doi.org/10.1186/..