E-LIB Suche - Ergebnisse für: Balasubramanian, Ravikumar

1

Defective FGFR1 signaling disrupts glucose regulation: Evid..:

Stamou, Maria I ; Chiu, Crystal J ; Jadhav, Shreya V...
Journal of the Endocrine Society. , 2024

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

2

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/..

3

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/..

4

Behind the scenes: epigenetic mechanisms rule the roost in ..:

Balasubramanian, Ravikumar
The Lancet Diabetes & Endocrinology. 11 (2023) 8 - p. 526-527 , 2023

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

5

OR34-04 Defective FGFR1 Signaling Disrupts Glucose Regulati..:

Stamou, Maria ; Chiu, Crystal Jane ; Jadhav, Shreya...
Journal of the Endocrine Society. 7 (2023) Supplement_1 - p. , 2023

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

6

THU640 Clustering Of Genetic Loci Identifies 4 Distinct Pol..:

Stamou, Maria ; Smith, Kirk T ; Kim, Hyunkyung...
Journal of the Endocrine Society. 7 (2023) Supplement_1 - p. , 2023

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

7

A functional spectrum of PROKR2 mutations identified in iso..:

Wang, Xinying ; Chen, Danna ; Zhao, Yaguang...
Human Molecular Genetics. 32 (2023) 10 - p. 1722-1729 , 2023

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

8

Polycystic Ovary Syndrome Physiologic Pathways Implicated T..:

Stamou, Maria I ; Smith, Kirk T ; Kim, Hyunkyung...
The Journal of Clinical Endocrinology & Metabolism. 109 (2023) 4 - p. 968-977 , 2023

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

9

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/..

10

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/..

11

Low Perinatal Androgens Predict Recalled Childhood Gender N..:

Shirazi, Talia N. ; Self, Heather ; Rosenfield, Kevin A....
Psychological Science. 33 (2022) 3 - p. 343-353 , 2022

Link: https://doi.org/10.1177/..

12

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/..

13

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/..

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/..

15

Prevalence and Phenotypic Effects of Copy Number Variants i..:

Stamou, Maria I ; Brand, Harrison ; Wang, Mei...
The Journal of Clinical Endocrinology & Metabolism. 107 (2022) 8 - p. 2228-2242 , 2022

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