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Delot, Emmanuele
37
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1
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/..
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2
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/..
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3
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/..
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4
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/..
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5
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/..
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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/..
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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/..
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8
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/..
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9
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/..
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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/..
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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/..
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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/..
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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/..
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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/..
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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/..
1-15