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Seminara, Stephanie B
296  Ergebnisse:
Personensuche X
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1

Contributions of Common Genetic Variants to Constitutional ..:

Lippincott, Margaret F ; Schafer, Evan C ; Hindman, Anna A...
The Journal of Clinical Endocrinology & Metabolism.  , 2024
Link: https://doi.org/10.1210/..
 
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2

Defective FGFR1 Signaling Disrupts Glucose Regulation: Evid..:

Stamou, Maria I ; Chiu, Crystal J ; Jadhav, Shreya V...
Journal of the Endocrine Society.  8 (2024)  8 - p. , 2024
Link: https://doi.org/10.1210/..
 
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3

Classes and predictors of reversal in male patients with co..:

Dwyer, Andrew A ; McDonald, Isabella R ; Cangiano, Biagio...
The Lancet Diabetes & Endocrinology.  12 (2024)  4 - p. 257-266 , 2024
Link: https://doi.org/10.1016/..
 
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4

FRI285 Evidence For ZIC1 As A Novel Gene For Isolated Hypog..:

Cassin, Jessica ; Keefe, David L ; Sung, Kaitlin E...
Journal of the Endocrine Society.  7 (2023)  Supplement_1 - p. , 2023
Link: https://doi.org/10.1210/..
 
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5

POU6F2 mutation in humans with pubertal failure alters GnRH..:

Cho, Hyun-Ju ; Gurbuz, Fatih ; Stamou, Maria...
Frontiers in Endocrinology.  14 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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6

How human genetic context can inform pathogenicity classifi..:

Xu, Wanxue ; Plummer, Lacey ; Seminara, Stephanie B...
Human Genetics.  142 (2023)  11 - p. 1611-1619 , 2023
Link: https://doi.org/10.1007/..
 
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7

Heterozygous mutations in SOX2 may cause idiopathic hypogon..:

Cassin, Jessica ; Stamou, Maria I. ; Keefe, Kimberly W....
JCI Insight.  8 (2023)  3 - p. , 2023
Link: https://doi.org/10.1172/..
 
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8

Prevalence of Deleterious Variants in MC3R in Patients With..:

Duckett, Katie ; Williamson, Alice ; Kincaid, John W R...
The Journal of Clinical Endocrinology & Metabolism.  108 (2023)  12 - p. e1580-e1587 , 2023
Link: https://doi.org/10.1210/..
 
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9

Phenotypic continuum between Waardenburg syndrome and idiop..:

Rojas, Rebecca A. ; Kutateladze, Anna A. ; Plummer, Lacey...
Genetics in Medicine.  25 (2023)  6 - p. 100855 , 2023
Link: https://doi.org/10.1016/..
 
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10

THU206 Constitutional Delay Of Puberty And Idiopathic Hypog..:

Lippincott, Margaret Flynn ; Schafer, Evan ; Hindman, Anna A...
Journal of the Endocrine Society.  7 (2023)  Supplement_1 - p. , 2023
Link: https://doi.org/10.1210/..
 
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11

The p190 RhoGAPs, ARHGAP35, and ARHGAP5 are implicated in G..:

Lippincott, Margaret F. ; Xu, Wanxue ; Smith, Abigail A....
Genetics in Medicine.  24 (2022)  12 - p. 2501-2515 , 2022
Link: https://doi.org/10.1016/..
 
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12

Kisspeptin Overcomes GnRH Neuronal Suppression Secondary to..:

Hoskova, Katerina ; Kayton Bryant, Nora ; Chen, Margaret E...
The Journal of Clinical Endocrinology & Metabolism.  107 (2022)  8 - p. e3515-e3525 , 2022
Link: https://doi.org/10.1210/..
 
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13

Reversible hypogonadotropic hypogonadism in men with the fe..:

Dwyer, Andrew A. ; Stamou, Maria ; McDonald, Isabella R....
Frontiers in Endocrinology.  13 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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14

Reproductive Phenotypes and Genotypes in Men With IHH:

Dwyer, Andrew A ; Stamou, Maria I ; Anghel, Ella...
The Journal of Clinical Endocrinology & Metabolism.  108 (2022)  4 - p. 897-908 , 2022
Link: https://doi.org/10.1210/..
 
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15

LBMON114 Enrichment Of Rare Sequence Variants In Genes That..:

Brown, Ethan ; Shekhar, Skand ; Delaney, Angela...
Journal of the Endocrine Society.  6 (2022)  Supplement_1 - p. A466-A467 , 2022
Link: https://doi.org/10.1210/..
 
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