E-LIB Suche - Ergebnisse für: Rodriguez-Buritica, David

1

P284: Clinical overlap in two patients with 46,XY DSD and l..:

Shields, Kathleen ; Kresge, Christina ; Pletcher, Beth..
Genetics in Medicine Open. 2 (2024) - p. 101180 , 2024

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

2

P062: A case of ornithine transcarbamylase deficiency:

Campo, Suad Siuffi ; Hillman, Paul ; Rodriguez-Buritica, David
Genetics in Medicine Open. 2 (2024) - p. 100939 , 2024

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

3

P017: Donor organ failure: The importance of donor heterozy..:

Gunther, Kathryn ; Rodriguez-Buritica, David ; Imseis, Essam.
Genetics in Medicine Open. 1 (2023) 1 - p. 100027 , 2023

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

4

P486: Establishing normative collagen X levels in blood in ..:

Hoover-Fong, Julie ; Little, Mary Ellen ; Legare, Janet...
Genetics in Medicine Open. 1 (2023) 1 - p. 100533 , 2023

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

5

Dermatological concerns for women and girls with turner syn..:

Rodriguez-Buritica, David ; Mones, Meaghan ; Prakash, Siddharth K....
Frontiers in Medicine. 10 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

6

P305: Dual diagnoses of mosaic SRY deletion and HSD17B3 def..:

Shields, Kathleen ; Rodriguez-Buritica, David ; Farach, Laura
Genetics in Medicine Open. 1 (2023) 1 - p. 100333 , 2023

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

7

P192: Heterozygous ACTB pathogenic variant causing Baraitse..:

Hill, Jeremy ; Shields, Kathleen ; Rodriguez-Buritica, David..
Genetics in Medicine Open. 1 (2023) 1 - p. 100221 , 2023

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

8

eP114: De novo prenatal diagnosis of X-linked Acromegaly Gi..:

Dunnington, Leslie ; Rodriguez-Buritica, David ; Gould, Helen
Genetics in Medicine. 24 (2022) 3 - p. S72 , 2022

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

9

A Prospective Study on Continuous Glucose Monitoring in Gly..:

Rossi, Alessandro ; Venema, Annieke ; Haarsma, Petra...
The Journal of Clinical Endocrinology & Metabolism. 107 (2022) 9 - p. e3612-e3623 , 2022

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

10

OP048: The impact of route of delivery on surgical morbidit..:

Brar, Bobby ; Hoover-Fong, Julie ; Gough, Ethan...
Genetics in Medicine. 24 (2022) 3 - p. S373 , 2022

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

11

Expanding Our Knowledge of Menstrual Irregularities Reporte..:

Mowrey, Kate ; Northrup, Hope ; Hashmi, Syed Shahrukh.
Frontiers in Reproductive Health. 4 (2022) - p. , 2022

Link: https://doi.org/10.3389/..

12

eP019: Case presentation: Dual diagnosis of LCHAD deficienc..:

Kacpura, Abigail ; Roberts, Paige ; Rodriguez-Buritica, David.
Genetics in Medicine. 24 (2022) 3 - p. S13 , 2022

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

13

Frequency, Progression, and Current Management: Report of 1..:

Mowrey, Kate ; Northrup, Hope ; Rougeau, Peyton...
Frontiers in Neurology. 12 (2021) - p. , 2021

Link: https://doi.org/10.3389/..

14

Hypoglycemia in mitochondrial disorders:

Ashfaq, Myla ; Moats, Allison R. ; Northrup, Hope...
Mitochondrion. 58 (2021) - p. 179-183 , 2021

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

15

Haploinsufficiency of PRR12 causes a spectrum of neurodevel..:

Chowdhury, Fuad ; Wang, Lei ; Al-Raqad, Mohammed...
Genetics in Medicine. 23 (2021) 7 - p. 1234-1245 , 2021

Link: https://doi.org/10.1038/..