E-LIB Suche - Ergebnisse für: Babcock, Melanie

1

Clinical Cytogenetics: Current Practices and Beyond:

Mathew, Mariam T ; Babcock, Melanie ; Hou, Ying-Chen Claire...
The Journal of Applied Laboratory Medicine. 9 (2024) 1 - p. 61-75 , 2024

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

2

Clinically significant findings in a decade‐long retrospect..:

Olayiwola, Joie O. ; Marhabaie, Mohammad ; Koboldt, Daniel...
Molecular Genetics & Genomic Medicine. 12 (2024) 3 - p. , 2024

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

3

P654: Evaluation of the ClinGen/CGC/VICC Oncogenicity Guide..:

Goar, Wesley ; Kuzma, Kori ; Stahl, Kathryn...
Genetics in Medicine Open. 1 (2023) 1 - p. 100719 , 2023

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

4

O13: Clinical validation of copy number alteration using pa..:

Schieffer, Kathleen ; Gordon, David ; Wheeler, Gregory...
Genetics in Medicine Open. 1 (2023) 1 - p. 100057 , 2023

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

5

58. Implementing the ClinGen/CGC/VICC oncogenicity guidelin..:

Goar, Wesley ; Kuzma, Kori ; Stahl, Kathryn...
Cancer Genetics. 278-279 (2023) - p. 18 , 2023

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

6

P070: Discerning the meaning of cancer predisposition varia..:

Macke, Erica ; Schieffer, Kathleen ; Mathew, Mariam...
Genetics in Medicine Open. 1 (2023) 1 - p. 100089 , 2023

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

7

P424: An unusual recombinant chromosome 6 derived from a pa..:

Babcock, Melanie ; Lancaster, Emily ; Ortiz, Damara...
Genetics in Medicine Open. 1 (2023) 1 - p. 100471 , 2023

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

8

Reproductive outcomes in carriers of chromosomal reciprocal..:

Verdoni, Angela ; Hu, Jie ; Surti, Urvashi...
Molecular Genetics and Metabolism. 132 (2021) - p. S318 , 2021

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

9

Reproductive outcomes in individuals with chromosomal recip..:

Verdoni, Angela ; Hu, Jie ; Surti, Urvashi...
Genetics in Medicine. 23 (2021) 9 - p. 1753-1760 , 2021

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

10

Spectrum of elastin sequence variants and cardiovascular ph..:

Delio, Maria ; Pope, Kathleen ; Wang, Tao...
American Journal of Medical Genetics Part A. 161 (2013) 3 - p. 527-533 , 2013

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

11

Genotype–phenotype correlation in interstitial 6q deletions..:

Rosenfeld, Jill A. ; Amrom, Dina ; Andermann, Eva...
neurogenetics. 13 (2012) 1 - p. 31-47 , 2012

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

12

Dextrocardia, atrial septal defect, severe developmental de..:

Pope, Kathleen ; Samanich, Joy ; Ramesh, K.H....
American Journal of Medical Genetics Part A. 158A (2012) 3 - p. 641-647 , 2012

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

13

New cases and refinement of the critical region in the 1q41..:

Rosenfeld, Jill A. ; Lacassie, Yves ; El-Khechen, Dima...
European Journal of Medical Genetics. 54 (2011) 1 - p. 42-49 , 2011

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

14

Molecular characterization of an interstitial deletion of 1..:

Petti, Marilena ; Samanich, Joy ; Pan, Qiulu...
American Journal of Medical Genetics Part A. 155 (2011) 4 - p. 825-832 , 2011

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

15

GJB2 mutation spectrum in 209 hearing impaired individuals ..:

Shan, Jidong ; Chobot-Rodd, Janie ; Castellanos, Raquel...
International Journal of Pediatric Otorhinolaryngology. 74 (2010) 6 - p. 611-618 , 2010

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