Suchergebnisse - "HDR syndrome"

PubPharm (67)

1

HDR syndrome, detected in the neonatal period by newborn hearing screening

enthalten in: Auris, nasus, larynx | 2024

von Takai, S. | Adachi, M. | Takahashi, H. | +4

2

A novel GATA3 frameshift mutation causes hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome

enthalten in: Molecular genetics and metabolism reports | 2024

von Huang, B. | Li, S. | Chai, Y. | +6

3

Barakat syndrome presenting as isolated sensorineural hearing loss

in: Otolaryngology Case Reports | 2024

von Angela S. Zhu | Danielle Reny Larrow | Michael S. Cohen

4

A Novel Mutation in GATA3 Gene in a Case of Hypoparathyroidism, Deafness, and Renal Dysplasia Syndrome

enthalten in: Indian journal of nephrology | 2023

von Prabhu, P. | Ballal, S. | Augustine, R. | +1

5

Barakat syndrome

enthalten in: Vnitrni lekarstvi | 2023

von Berkešová, B. | Borbély, Z.

6

Hypoparathyroidism, deafness and renal dysplasia syndrome caused by a GATA3 splice site mutation leading to the activation of a cryptic splice site

enthalten in: Frontiers in endocrinology | 2023

von Gonçalves, C. | Carriço, J. | Omar, O. | +2

7

A GATA3 gene mutation that causes incorrect splicing and HDR syndrome : a case study and literature review

enthalten in: Frontiers in genetics | 2023

von Tao, Y. | Yang, L. | Han, D. | +5

8

Hypoparathyroidism, Sensorineural Deafness, and Renal Disease Syndrome Presenting With Febrile Seizures and Hypocalcemia

enthalten in: JCEM case reports | 2023

von Gandolfi, A. | Ratnasamy, K. | Minutti, C.

9

A case of hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome with kidney failure and recurrent pancreatitis : Questions

enthalten in: Pediatric nephrology (Berlin, Germany) | 2021

von Yoshino, A. | Kawamoto, S. | Abe, T. | +4

10

A case of hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome with kidney failure and recurrent pancreatitis : Answers

enthalten in: Pediatric nephrology (Berlin, Germany) | 2021

von Yoshino, A. | Kawamoto, S. | Abe, T. | +4

1
2
3
4
5
6
7
Nächster »
[7]