E-LIB Suche - Ergebnisse für: Delot, Emmanuele

1

P821: Long-read sequencing resolves CYP21A2 alleles in cong..:

Délot, Emmanuèle ; Monlong, Jean ; Chen, Xiao...
Genetics in Medicine Open. 2 (2024) - p. 101732 , 2024

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

2

Reprograming skin fibroblasts into Sertoli cells: a patient..:

Parivesh, Abhinav ; Délot, Emmanuèle ; Reyes, Alejandra...
Biology of Sex Differences. 15 (2024) 1 - p. , 2024

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

3

Benchmarking long-read genome sequence alignment tools for ..:

LoTempio, Jonathan ; Delot, Emmanuele ; Vilain, Eric
PeerJ. 11 (2023) - p. e16515 , 2023

Link: https://doi.org/10.7717/..

4

Using a chat-based informed consent tool in large-scale gen..:

Savage, Sarah K ; LoTempio, Jonathan ; Smith, Erica D...
Journal of the American Medical Informatics Association. 31 (2023) 2 - p. 472-478 , 2023

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

5

P227: De novo GATA4 deletion in a 46,XX boy with hypospadia..:

Leon, Eyby ; Gomez-Lobo, Veronica ; Shimy, Kim...
Genetics in Medicine Open. 1 (2023) 1 - p. 100255 , 2023

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

6

P148: Novel molecular diagnoses in individuals with holopro..:

Cohen, Andrea ; Hughes, Joel ; Dalgard, Clifton...
Genetics in Medicine Open. 1 (2023) 1 - p. 100177 , 2023

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

7

Precocious Puberty in a Boy With Bilateral Leydig Cell Tumo..:

Flippo, Chelsi ; Kolli, Vipula ; Andrew, Melissa...
Journal of the Endocrine Society. 6 (2022) 10 - p. , 2022

Link: https://doi.org/10.1210/..

8

Exploring Genetic Causes of Paratubal Cyst Formation in the..:

Patel, Nishita ; Naroji, Swetha ; Kyrillos, Alexandra...
Journal of Pediatric and Adolescent Gynecology. 35 (2022) 2 - p. 213-214 , 2022

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

9

eP192: Differences of Sex Development (DSD) in Central Afri..:

Mosema, Kizito ; Spencer, D'Andre ; Bramble, Matthew...
Genetics in Medicine. 24 (2022) 3 - p. S118-S119 , 2022

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

10

59. Tamoxifen for Puberty Induction and Bone Mineral Densit..:

Naroji, Swetha ; Shimy, Kim ; Delot, Emmanuele.
Journal of Pediatric and Adolescent Gynecology. 34 (2021) 2 - p. 262 , 2021

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

11

Newborn Screening Protocols and Positive Predictive Value f..:

Speiser, Phyllis ; Chawla, Reeti ; Chen, Ming...
International Journal of Neonatal Screening. 6 (2020) 2 - p. 37 , 2020

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

12

SAT-LB050 Congenital Adrenal Hyperplasia Newborn Screening ..:

Speiser, Phyllis ; Chawla, Reeti ; Chen, Ming...
Journal of the Endocrine Society. 3 (2019) Supplement_1 - p. , 2019

Link: https://doi.org/10.1210/..

13

Disorders of sex development (DSD): Clinical service delive..:

Rolston, Aimee M. ; Gardner, Melissa ; van Leeuwen, Kathleen...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 175 (2017) 2 - p. 268-278 , 2017

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

14

Exome Sequencing for the Diagnosis of 46,XY Disorders of Se..:

Baxter, Ruth M. ; Arboleda, Valerie A. ; Lee, Hane...
The Journal of Clinical Endocrinology & Metabolism. 100 (2015) 2 - p. E333-E344 , 2015

Link: https://doi.org/10.1210/..

15

Regulation of Sex Determination in Mice by a Non-coding Gen..:

Arboleda, Valerie A ; Fleming, Alice ; Barseghyan, Hayk...
Genetics. 197 (2014) 3 - p. 885-897 , 2014

Link: https://doi.org/10.1534/..