E-LIB Suche - Ergebnisse für: Austin Hamm, J.

1

Genetic Syndromes With an Associated Cancer Risk:

, In: Pediatric Cancer Genetics,

Austin Hamm, J. - p. 65-75 , 2018

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

2

List of Contributors:

, In: Pediatric Cancer Genetics,

Alva, Elizabeth ; Austin Hamm, J. ; Chewning, Joseph H.... - p. v , 2018

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

3

The G78D variant in IDUA – a potential hypomorphic variant ..:

Peck, Dawn ; Hall, Patricia ; Hamm, J. Austin...
Molecular Genetics and Metabolism. 141 (2024) 4 - p. 108339 , 2024

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

4

MO047: Biallelic pathogenic variants in ROBO1 associate wit..:

Münch, Johannes ; Engesser, Marie ; Schönauer, Ria...
Nephrology Dialysis Transplantation. 37 (2022) Supplement_3 - p. , 2022

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

5

Expanding the mutational spectrum for branchiooculofacial s..:

Powis, Zoe ; Hayes, Hannah ; Hamm, J. Austin..
Molecular Genetics and Metabolism. 132 (2021) - p. S269 , 2021

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

6

TSPEAR variants are primarily associated with ectodermal dy..:

Bowles, Bradley ; Ferrer, Alejandro ; Nishimura, Carla J....
American Journal of Medical Genetics Part A. 185 (2021) 8 - p. 2417-2433 , 2021

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

7

The role of biomarkers for the follow up of infants with po..:

Pino, Gisele ; Studinski, April ; White, Amy...
Molecular Genetics and Metabolism. 132 (2021) - p. S20 , 2021

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

8

Incorporation of Second-Tier Biomarker Testing Improves the..:

Peck, Dawn S. ; Lacey, Jean M. ; White, Amy L....
International Journal of Neonatal Screening. 6 (2020) 1 - p. 10 , 2020

Link: https://doi.org/10.3390/..

9

Foramen magnum compression in Coffin–Lowry syndrome: A case..:

Upadia, Jariya ; Oakes, Jerry ; Hamm, Austin..
American Journal of Medical Genetics Part A. 173 (2017) 4 - p. 1087-1089 , 2017

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

10

Leukodystrophy and Neurogenic EMG Changes Associated with V..:

Venkatraman, Anand ; Hamm, J. Austin ; Shaefer, Alexis..
Neurology. 86 (2016) 16_supplement - p. , 2016

Link: https://doi.org/10.1212/..

11

Partial trisomy 21: A fifty‐year follow‐up visit:

Hamm, J. Austin ; Carroll, Andrew J. ; Mikhail, Fady M...
American Journal of Medical Genetics Part A. 167 (2015) 7 - p. 1610-1613 , 2015

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

12

Incidental Detection of Cancer Predisposition Gene Copy Num..:

Hamm, J. Austin ; Mikhail, Fady M. ; Hollenbeck, Dana..
The Journal of Pediatrics. 165 (2014) 5 - p. 1057-1059.e4 , 2014

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

13

Incorporation of Second-Tier Biomarker Testing Improves the..:

Dawn S. Peck ; Jean M. Lacey ; Amy L. White...
https://www.mdpi.com/2409-515X/6/1/10. , 2020

Link: https://doi.org/10.3390/..

14

Incorporation of Second-Tier Biomarker Testing Improves the..:

Dawn S. Peck ; Jean M. Lacey ; Amy L. White...
https://dx.doi.org/10.3390/ijns6010010. , 2020

Link: https://doi.org/10.3390/..

15

Delineating the genotypic and phenotypic spectrum of HECW2-..:

Acharya, Anushree ; Kavus, Haluk ; Dunn, Patrick...
10.1136/jmedgenet-2021-107871. , 2023

Link: http://hdl.handle.net/10..