E-LIB Suche - Ergebnisse für: Li, Mindy

1

P026: Severe central apnea in two siblings with ALG8-CDG:

Luz, Danielle ; Chung, Joyce ; Corrado, Alisa.
Genetics in Medicine Open. 1 (2023) 1 - p. 100036 , 2023

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

2

eP181: Expanding the phenotype of LMNB1 duplication: Three ..:

Luz, Danielle ; Hogan, Kelsey ; Gordon, Laurel.
Genetics in Medicine. 24 (2022) 3 - p. S112 , 2022

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

3

eP202: A new pathologic KMT2B variant associated with child..:

Owczarzak, Laura ; Hogan, Kelsey ; Dineen, Richard..
Genetics in Medicine. 24 (2022) 3 - p. S124-S125 , 2022

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

4

Offering preimplantation genetic testing for monogenic diso..:

Porto, Anthony ; Gaber Caffrey, Rikki ; Crowley‐Matoka, Megan...
Journal of Genetic Counseling. 31 (2021) 1 - p. 261-268 , 2021

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

5

Trisomy 9 mosaic syndrome: Sixteen additional patients with..:

Li, Mindy ; Glass, Jennifer ; Du, Xiaoli...
American Journal of Medical Genetics Part A. 185 (2021) 8 - p. 2374-2383 , 2021

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

6

Medical students' knowledge of, experiences with, and attit..:

Gordon, Laurel ; Wasson, Katherine ; Li, Mindy
Molecular Genetics and Metabolism. 132 (2021) - p. S293-S294 , 2021

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

7

Inherited Interstitial Deletion of 3p22.3—p23 Involving GPD..:

Nguyen, Hoang ; Umapathi, Krishna Kishore ; Dineen, Richard..
Cardiogenetics. 10 (2020) 1 - p. 9193 , 2020

Link: https://doi.org/10.4081/..

8

Recommendations for the integration of genomics into clinic..:

Bowdin, Sarah ; Gilbert, Adel ; Bedoukian, Emma...
Genetics in Medicine. 18 (2016) 11 - p. 1075-1084 , 2016

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

9

Utility and limitations of exome sequencing as a genetic di..:

Sheppard, Sarah ; Biswas, Sawona ; Li, Mindy H....
Genetics in Medicine. 20 (2018) 12 - p. 1663-1676 , 2018

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

10

Total colonic aganglionosis and imperforate anus in a sever..:

Li, Mindy H. ; Eberhard, Moriah ; Mudd, Pamela...
American Journal of Medical Genetics Part A. 167 (2015) 3 - p. 617-620 , 2015

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

11

Compound heterozygote CDK5RAP2 mutations in a Guatemalan/Ho..:

Li, Mindy H ; Arndt, Kelly ; Das, Soma...
American Journal of Medical Genetics Part A. 167 (2015) 6 - p. 1414-1417 , 2015

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

12

Utility and limitations of exome sequencing as a genetic di..:

Li, Mindy H. ; Abrudan, Jenica L. ; Dulik, Matthew C....
Human Genomics. 9 (2015) 1 - p. , 2015

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

13

Trisomy 9 mosaic syndrome: Sixteen additional patients with..:

Li, Mindy ; Glass, Jennifer ; Du, Xiaoli...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8662755/. , 2021

Link: http://www.ncbi.nlm.nih...

14

Missense Variants in the Histone Acetyltransferase Complex ..:

Cogné, Benjamin ; Ehresmann, Sophie ; Beauregard-Lacroix, Eliane...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2019.01.010. , 2019

Link: https://univ-rennes.hal...

15

Missense Variants in the Histone Acetyltransferase Complex ..:

Cogné, Benjamin ; Ehresmann, Sophie ; Beauregard-Lacroix, Eliane...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2019.01.010. , 2019

Link: https://univ-rennes.hal...