E-LIB Suche - Ergebnisse für: Ganguly, Arupa

1

Specifications of the ACMG/AMP Variant Curation Guidelines ..:

DeMille, Desiree ; McDonald, Jamie ; Bernabeu, Carmelo...
Human Mutation. 2024 (2024) - p. 1-13 , 2024

Link: https://doi.org/10.1155/..

2

Improved Staging of Ciliary Body and Choroidal Melanomas Ba..:

Stålhammar, Gustav ; Coupland, Sarah E. ; Ewens, Kathryn G....
Ophthalmology. 131 (2024) 4 - p. 478-491 , 2024

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

3

P584: Systematic review and reclassification of 20 years of..:

Brewer, Niambi ; Limmina, Maria ; Martz, Lucas..
Genetics in Medicine Open. 2 (2024) - p. 101490 , 2024

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

4

Genome-Wide Methylation Patterns in Primary Uveal Melanoma:..:

Lalonde, Emilie ; Li, Dong ; Ewens, Kathryn..
Cancers. 16 (2024) 15 - p. 2650 , 2024

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

5

Expanded phenotype and cancer risk in patients with Beckwit..:

George, Andrew M. ; Viswanathan, Aravind ; Best, Lyle G....
American Journal of Medical Genetics Part A. , 2024

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

6

The association between maternal nutrient intake during pre..:

Jung, Eun Mi ; Bunin, Greta R. ; Ganguly, Arupa..
Cancer Epidemiology. 85 (2023) - p. 102376 , 2023

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

7

Microcystic lymphatic malformations in Turner syndrome are ..:

Nriagu, Bede N. ; Williams, Lydia S. ; Brewer, Niambi...
American Journal of Medical Genetics Part A. 194 (2023) 1 - p. 64-69 , 2023

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

8

Lymphatic disorders caused by mosaic, activating KRAS varia..:

Sheppard, Sarah E. ; March, Michael E. ; Seiler, Christoph...
JCI Insight. 8 (2023) 9 - p. , 2023

Link: https://doi.org/10.1172/..

9

The Broad Spectrum of TP53 Mutations in CLL: Evidence of Mu..:

Lazarian, Grégory ; Leroy, Bernard ; Theves, Floriane...
Human Mutation. 2023 (2023) - p. 1-17 , 2023

Link: https://doi.org/10.1155/..

10

P432: Somatic overgrowth and vascular malformation: Clinica..:

Brewer, Niambi ; Ganguly, Arupa
Genetics in Medicine Open. 1 (2023) 1 - p. 100479 , 2023

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

11

54. VMD4Kids: A highly sensitive NGS panel to detect low-le..:

Dharmadhikari, Avinash ; Ostrow, Dejerianne ; Maglinte, Dennis...
Cancer Genetics. 278-279 (2023) - p. 17 , 2023

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

12

Orofacial overgrowth with peripheral nerve enlargement and ..:

Koutlas, Ioannis G. ; Anbinder, Ana-Lia ; Alshagroud, Rana...
Human Genetics and Genomics Advances. 3 (2022) 1 - p. 100062 , 2022

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

13

A prognostic classification system for uveal melanoma based..:

Gill, Viktor T. ; Sabazade, Shiva ; Herrspiegel, Christina...
Acta Ophthalmologica. 101 (2022) 1 - p. 34-48 , 2022

Link: https://doi.org/10.1111/..

14

Familial Beckwith‐Wiedemann syndrome in a multigenerational..:

Best, Lyle G. ; Duffy, Kelly A. ; George, Andrew M...
American Journal of Medical Genetics Part A. 191 (2022) 2 - p. 348-356 , 2022

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

15

Chromosome 3 and 8q Aberrations in Uveal Melanoma Show Grea..:

Wierenga, Annemijn P.A. ; Brouwer, Niels J. ; Gelmi, Maria Chiara...
Ophthalmology. 129 (2022) 4 - p. 421-430 , 2022

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