E-LIB Suche - Ergebnisse für: Zarate, Yuri A.

1

P343: Skeletal anomalies in RAD21-associated Cornelia de La..:

Bunch, Miriam ; Zarate, Yuri
Genetics in Medicine Open. 2 (2024) - p. 101237 , 2024

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

2

Abnormalities in pharyngeal arch‐derived structures in SATB..:

Zarate, Yuri A. ; Bosanko, Katherine ; Derar, Nada.
Clinical Genetics. 106 (2024) 2 - p. 209-213 , 2024

Link: https://doi.org/10.1111/..

3

P502: Workflow evaluation of individuals for abnormal newbo..:

Zarate, Yuri ; Silva, Maria ; Crutcher, Angela...
Genetics in Medicine Open. 2 (2024) - p. 101401 , 2024

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

4

NR3C2 microdeletions—an underrecognized cause of pseudohypo..:

Boyanton Jr, Bobby L ; Zarate, Yuri A ; Broadfoot, Brannon G..
Laboratory Medicine. , 2024

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

5

Bone health in SATB2‐associated syndrome: Results from a la..:

Zarate, Yuri A. ; Bosanko, Katherine ; Andres, Aline.
American Journal of Medical Genetics Part A. 194 (2023) 2 - p. 203-210 , 2023

Link: https://doi.org/10.1002/..

6

Quantitative Phenotype Morbidity Description of SATB2-Assoc..:

Zarate, Yuri A. ; Bosanko, Katherine ; Kannan, Amrit...
Human Mutation. 2023 (2023) - p. 1-9 , 2023

Link: https://doi.org/10.1155/..

7

Bi-allelic variants in INTS11 are associated with a complex..:

Tepe, Burak ; Macke, Erica L. ; Niceta, Marcello...
The American Journal of Human Genetics. 110 (2023) 5 - p. 774-789 , 2023

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

8

P369: SATB2-associated syndrome severity score: Genotype/ph..:

Zarate, Yuri ; Bosanko, Katherine ; Kannan, Amrit...
Genetics in Medicine Open. 1 (2023) 1 - p. 100397 , 2023

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

9

Listening to patients with suspected genetic diagnoses: A n..:

Slocum, Robert B. ; Hurst, Anna C. E. ; Shelley, Ellis...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics. , 2023

Link: https://doi.org/10.1002/..

10

Bi-allelic variants in NAE1 cause intellectual disability, ..:

Muffels, Irena J.J. ; Schene, Imre F. ; Rehmann, Holger...
The American Journal of Human Genetics. 110 (2023) 1 - p. 146-160 , 2023

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

11

Once-weekly TransCon CNP (navepegritide) in children with a..:

Savarirayan, Ravi ; Hoernschemeyer, Daniel G. ; Ljungberg, Merete...
eClinicalMedicine. 65 (2023) - p. 102258 , 2023

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

12

THU156 Significantly Improved Annual Height Velocity With O..:

Savarirayan, Ravi ; McDonnell, Ciara ; Hoernschemeyer, Daniel G...
Journal of the Endocrine Society. 7 (2023) Supplement_1 - p. , 2023

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

13

Loss-of-function variants in MYCBP2 cause neurobehavioural ..:

AlAbdi, Lama ; Desbois, Muriel ; Rusnac, Domniţa-Valeria...
Brain. 146 (2022) 4 - p. 1373-1387 , 2022

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

14

A clinical scoring system for early onset (neonatal) Marfan..:

Zarate, Yuri A. ; Morris, Shaine A. ; Blackshare, Anna...
Genetics in Medicine. 24 (2022) 7 - p. 1503-1511 , 2022

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

15

OP023: A clinical scoring system for early onset (neonatal)..:

Zarate, Yuri ; Morris, Shaine ; Blackshare, Anna...
Genetics in Medicine. 24 (2022) 3 - p. S353 , 2022

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