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Achermann, John C.
297  Ergebnisse:
Personensuche X
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1

A conserved NR5A1-responsive enhancer regulates SRY in test..:

Houzelstein, Denis ; Eozenou, Caroline ; Lagos, Carlos F....
Nature Communications.  15 (2024)  1 - p. , 2024
Link: https://doi.org/10.1038/..
 
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2

Steroidogenic factor-1 (NR5A1): orphan nuclear receptor fin..:

Achermann, John C.
eBioMedicine.  100 (2024)  - p. 104984 , 2024
Link: https://doi.org/10.1016/..
 
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3

Investigating ultrastructural morphology in MIRAGE syndrome..:

Buonocore, Federica ; Balys, Monika ; Anderson, Glenn.
F1000Research.  12 (2024)  - p. 155 , 2024
Link: https://doi.org/10.12688..
 
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4

List of contributors:

, In: Genetic Steroid Disorders,
Achermann, John C. ; Auchus, Richard J. ; Baquedano, Maria Sonia... - p. xiii-xv , 2023
Link: https://doi.org/10.1016/..
 
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5

An integrated single-cell analysis of human adrenal cortex ..:

del Valle, Ignacio ; Young, Matthew D. ; Kildisiute, Gerda...
JCI Insight.  8 (2023)  14 - p. , 2023
Link: https://doi.org/10.1172/..
 
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6

Investigating ultrastructural morphology in MIRAGE syndrome..:

Buonocore, Federica ; Balys, Monika ; Anderson, Glenn.
F1000Research.  12 (2023)  - p. 155 , 2023
Link: https://doi.org/10.12688..
 
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7

Adrenal development:

, In: Genetic Steroid Disorders,
Xing, Yewei ; Achermann, John C. ; Hammer, Gary D. - p. 5-33 , 2023
Link: https://doi.org/10.1016/..
 
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8

Analysis of genetic variability in Turner syndrome linked t..:

Suntharalingham, Jenifer P. ; Ishida, Miho ; Cameron-Pimblett, Antoinette...
Frontiers in Endocrinology.  14 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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9

A Single-Center, Observational Study of 607 Children and Yo..:

Man, Elim ; Mushtaq, Imran ; Barnicoat, Angela...
Journal of the Endocrine Society.  7 (2022)  1 - p. , 2022
Link: https://doi.org/10.1210/..
 
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10

Pathogenic variants in RNPC3 are associated with hypopituit..:

Akin, Leyla ; Rizzoti, Karine ; Gregory, Louise C....
Genetics in Medicine.  24 (2022)  2 - p. 384-397 , 2022
Link: https://doi.org/10.1016/..
 
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11

Pathogenic variants in the human m6A reader YTHDC2 are asso..:

McGlacken-Byrne, Sinéad M. ; Del Valle, Ignacio ; Quesne Stabej, Polona Le...
JCI Insight.  7 (2022)  5 - p. , 2022
Link: https://doi.org/10.1172/..
 
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12

Can Digenic, Tri-Allelic Inheritance of Variants in STAR an..:

Ali, Naseer ; Maharaj, Avinaash Vickram ; Buonocore, Federica..
Frontiers in Endocrinology.  13 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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13

Insights From Long-term Follow-up of a Girl With Adrenal In..:

Maharaj, Avinaash ; Güran, Tülay ; Buonocore, Federica...
Journal of the Endocrine Society.  6 (2022)  5 - p. , 2022
Link: https://doi.org/10.1210/..
 
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14

Emerging phenotypes linked to variants in SAMD9 and MIRAGE ..:

Suntharalingham, Jenifer P. ; Ishida, Miho ; Del Valle, Ignacio...
Frontiers in Endocrinology.  13 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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15

Management of a Girl With Delayed Puberty and Elevated Gona..:

McGlacken-Byrne, Sinéad M ; Achermann, John C ; Conway, Gerard S
Journal of the Endocrine Society.  6 (2022)  9 - p. , 2022
Link: https://doi.org/10.1210/..
 
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