E-LIB Suche - Ergebnisse für: Monaghan, Kristin G

1

Noninvasive prenatal screening (NIPS) for fetal chromosome ..:

Dungan, Jeffrey S. ; Klugman, Susan ; Darilek, Sandra...
Genetics in Medicine. 25 (2023) 8 - p. 100874 , 2023

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

2

Updated recommendations for CFTR carrier screening: A posit..:

Deignan, Joshua L. ; Gregg, Anthony R. ; Grody, Wayne W....
Genetics in Medicine. 25 (2023) 8 - p. 100867 , 2023

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

3

Noninvasive prenatal screening (NIPS) for fetal chromosome ..:

Dungan, Jeffrey S. ; Klugman, Susan ; Darilek, Sandra...
Genetics in Medicine. 25 (2023) 2 - p. 100336 , 2023

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

4

Missense variants in ANKRD11 cause KBG syndrome by impairme..:

de Boer, Elke ; Ockeloen, Charlotte W. ; Kampen, Rosalie A....
Genetics in Medicine. 25 (2023) 11 - p. 100962 , 2023

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

5

A novel DPH5-related diphthamide-deficiency syndrome causin..:

Shankar, Suma P. ; Grimsrud, Kristin ; Lanoue, Louise...
Genetics in Medicine. 24 (2022) 10 - p. 2207 , 2022

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

6

A recurrent, de novo pathogenic variant in ARPC4 disrupts a..:

Laboy Cintron, Dianne ; Muir, Alison M. ; Scott, Abbey...
Human Genetics and Genomics Advances. 3 (2022) 1 - p. 100072 , 2022

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

7

A novel DPH5-related diphthamide-deficiency syndrome causin..:

Shankar, Suma P. ; Grimsrud, Kristin ; Lanoue, Louise...
Genetics in Medicine. 24 (2022) 7 - p. 1567-1582 , 2022

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

8

Semaphorin-Plexin Signaling: From Axonal Guidance to a New ..:

Steele, Jacqueline L. ; Morrow, Michelle M. ; Sarnat, Harvey B....
Pediatric Neurology. 126 (2022) - p. 65-73 , 2022

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

9

Variant-specific changes in RAC3 function disrupt corticoge..:

Scala, Marcello ; Nishikawa, Masashi ; Ito, Hidenori...
Brain. 145 (2022) 9 - p. 3308-3327 , 2022

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

10

Biallelic alterations in PLXND1 cause common arterial trunk..:

Guimier, Anne ; de Pontual, Loïc ; Braddock, Stephen R...
Human Molecular Genetics. 32 (2022) 3 - p. 353-356 , 2022

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

11

Missense variants in ANKRD11 cause KBG syndrome by impairme..:

de Boer, Elke ; Ockeloen, Charlotte W. ; Kampen, Rosalie A....
Genetics in Medicine. 24 (2022) 10 - p. 2051-2064 , 2022

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

12

DNA-based screening and population health: a points to cons..:

Murray, Michael F. ; Giovanni, Monica A. ; Doyle, Debra L....
Genetics in Medicine. 23 (2021) 6 - p. 989-995 , 2021

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

13

DNA-based screening and personal health: a points to consid..:

Bean, Lora J.H. ; Scheuner, Maren T. ; Murray, Michael F....
Genetics in Medicine. 23 (2021) 6 - p. 979-988 , 2021

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

14

Functional interpretation of ATAD3A variants in neuro-mitoc..:

Yap, Zheng Yie ; Park, Yo Han ; Wortmann, Saskia B....
Genome Medicine. 13 (2021) 1 - p. , 2021

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

15

BET1variants establish impaired vesicular transport as a ca..:

Donkervoort, Sandra ; Krause, Niklas ; Dergai, Mykola...
EMBO Molecular Medicine. 13 (2021) 12 - p. , 2021

Link: https://doi.org/10.15252..