E-LIB Suche - Ergebnisse für: Wadman, Erin

1

Novel biallelic ZNF335 variant causing primary microcephaly..:

Patel, Dhrumil Deveshkumar ; Gripp, Karen W. ; Wadman, Erin..
American Journal of Medical Genetics Part A. 194 (2024) 8 - p. , 2024

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

2

A novel syndrome associated with prenatal fentanyl exposure:

Wadman, Erin ; Fernandes, Erica ; Muss, Candace...
Genetics in Medicine Open. 1 (2023) 1 - p. 100834 , 2023

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

3

P343: Distinctive facial features, cleft palate, talipes eq..:

Wadman, Erin ; Fernandes, Erica ; Powell-Hamilton, Nina...
Genetics in Medicine Open. 1 (2023) 1 - p. 100371 , 2023

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

4

Moral distress in genetic counseling: A study of North Amer..:

Wadman, Erin ; Conway, Laura ; Garbarini, Jennifer.
Journal of Genetic Counseling. 31 (2022) 4 - p. 836-846 , 2022

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

5

eP218: A novel FGFR2 variant in a family with a spectrum of..:

Procopio, Rebecca ; Semina, Elena ; Reis, Linda...
Genetics in Medicine. 24 (2022) 3 - p. S136 , 2022

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

6

The recurrent missense mutation p.(Arg367Trp) in YARS1 caus..:

Averdunk, Luisa ; Sticht, Heinrich ; Surowy, Harald...
Journal of Molecular Medicine. 99 (2021) 12 - p. 1755-1768 , 2021

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

7

Expanding the KIF4A‐associated phenotype:

Kalantari, Silvia ; Carlston, Colleen ; Alsaleh, Norah...
American Journal of Medical Genetics Part A. 185 (2021) 12 - p. 3728-3739 , 2021

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

8

Correction to: The recurrent missense mutation p.(Arg367Trp..:

Averdunk, Luisa ; Sticht, Heinrich ; Surowy, Harald...
Journal of Molecular Medicine. 99 (2021) 12 - p. 1769-1770 , 2021

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

9

D-bifunctional protein (DBP) deficiency: expanding the phen..:

Wadman, Erin ; Kaplan, Julie
Molecular Genetics and Metabolism. 132 (2021) - p. S28 , 2021

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

10

The recurrent missense mutation p.(Arg367Trp) in YARS1 caus..:

Averdunk, Luisa ; Sticht, Heinrich ; Surowy, Harald...
https://repository.publisso.de/resource/frl:6448273. , 2021

Link: https://repository.publi..

11

The recurrent missense mutation p.(Arg367Trp) in YARS1 caus..:

Averdunk, Luisa ; Sticht, Heinrich ; Surowy, Harald...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8599376/. , 2021

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

12

Expanding the KIF4A ‐associated phenotype:

Kalantari, Silvia ; Carlston, Colleen ; Alsaleh, Norah...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9291479/. , 2021

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

13

Correction to: The recurrent missense mutation p.(Arg367Trp..:

Averdunk, Luisa ; Sticht, Heinrich ; Surowy, Harald...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9172859/. , 2021

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

14

The recurrent missense mutation p.(Arg367Trp) in YARS1 caus..:

Averdunk, Luisa ; Sticht, Heinrich ; Surowy, Harald...
https://opus4.kobv.de/opus4-fau/frontdoor/index/index/docId/22140. , 2021

Link: https://opus4.kobv.de/op..

15

P343: Distinctive facial features, cleft palate, talipes eq..:

Erin Wadman ; Erica Fernandes ; Nina Powell-Hamilton...
http://www.sciencedirect.com/science/article/pii/S2949774423003710. , 2023

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