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

Objective documentation of hypospadias anatomy with three-d..:

Lee, Albert S. ; Ho, Christina P. ; Creviston, Austin H....
Journal of Pediatric Urology. 20 (2024) 2 - p. 239.e1-239.e6 , 2024

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

4

Genome-wide neonatal epigenetic changes associated with mat..:

Kocher, Kristen ; Bhattacharya, Surajit ; Niforatos-Andescavage, Nickie...
BMC Medical Genomics. 16 (2023) 1 - p. , 2023

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

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

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/..

8

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/..

9

Increased diagnostic yield from negative whole genome‐slice..:

Berger, Seth I. ; Pitsava, Georgia ; Cohen, Andrea J....
Clinical Genetics. 104 (2023) 3 - p. 377-383 , 2023

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

10

Beyond the exome: What's next in diagnostic testing for Men..:

Wojcik, Monica H. ; Reuter, Chloe M. ; Marwaha, Shruti...
The American Journal of Human Genetics. 110 (2023) 8 - p. 1229-1248 , 2023

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

11

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/..

12

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/..

13

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/..

14

nanotatoR: a tool for enhanced annotation of genomic struct..:

Bhattacharya, Surajit ; Barseghyan, Hayk ; Délot, Emmanuèle C..
BMC Genomics. 22 (2021) 1 - p. , 2021

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

15

Paucity and Disparity of Publicly Available Sex-Disaggregat..:

Kocher, Kristen ; Delot-Vilain, Arthur ; Spencer, D'Andre..
Archives of Sexual Behavior. 50 (2021) 2 - p. 407-426 , 2021

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