E-LIB Suche - Ergebnisse für: Jorge, Alexander - Sprache DE

Personensuche X

Sortierung: Relevanz

Sortierung: Jahr

1

Clinical and Genetic Characterization of Familial Central P..:

Tinano, Flávia Rezende ; Canton, Ana Pinheiro Machado ; Montenegro, Luciana R...
The Journal of Clinical Endocrinology & Metabolism. 108 (2023) 7 - p. 1758-1767 , 2023

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

2

THU160 A Prospective Genetic Analysis Of Children With Idio..:

de Polli Cellin, Laurana ; Menezes De Andrade, Nathalia Liberatoscioli ; Rezende, Raíssa Carneiro...
Journal of the Endocrine Society. 7 (2023) Supplement_1 - p. , 2023

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

3

A thermosensitive PCNA allele underlies an ataxia-telangiec..:

Magrino, Joseph ; Munford, Veridiana ; Martins, Davi Jardim...
Journal of Biological Chemistry. 299 (2023) 5 - p. 104656 , 2023

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

4

Rare variants in the MECP2 gene in girls with central preco..:

Canton, Ana P M ; Tinano, Flávia R ; Guasti, Leonardo...
The Lancet Diabetes & Endocrinology. 11 (2023) 8 - p. 545-554 , 2023

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

5

Diagnosis of TBC1D32‐associated conditions: Expanding the p..:

Harris, Sarah C. ; Chong, Karen ; Chitayat, David...
American Journal of Medical Genetics Part A. 191 (2023) 5 - p. 1282-1292 , 2023

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

6

International Consensus Guideline on Small for Gestational ..:

Hokken-Koelega, Anita C S ; van der Steen, Manouk ; Boguszewski, Margaret C S...
Endocrine Reviews. 44 (2023) 3 - p. 539-565 , 2023

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

7

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/..

8

Identification of a second genetic alteration in patients w..:

Dantas, Naiara C B ; Funari, Mariana F A ; Lerário, Antonio M...
European Journal of Endocrinology. 189 (2023) 3 - p. 387-395 , 2023

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

9

Homozygous CDH2 variant may be associated with hypopituitar..:

Ferreira, Nathalia G B P ; Madeira, Joao L O ; Gergics, Peter...
Endocrine Connections. 12 (2023) 8 - p. , 2023

Link: https://doi.org/10.1530/..

10

Phenotypic and mutational spectrum ofROR2‐related Robinow s..:

Lima, Ariadne R. ; Ferreira, Barbara M. ; Zhang, Chaofan...
Human Mutation. 43 (2022) 7 - p. 900-918 , 2022

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

11

Clinical and genetic characterization and long-term evaluat..:

Campos Franco, Pedro ; Santos de Santana, Lucas ; Dantas Costa-Riquetto, Aline...
Diabetes Research and Clinical Practice. 187 (2022) - p. 109875 , 2022

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

12

Idiopathic Short Stature: Diagnostic and Therapeutic Approa..:

, In: Endocrinology and Diabetes,

Canton, Ana P. M. ; Jorge, Alexander A. L. - p. 163-172 , 2022

Link: https://doi.org/10.1007/..

13

eP151: Outcomes in growth hormone-treated Noonan syndrome c..:

Jorge, Alexander ; Pietropoli, Alberto ; Kelepouris, Nicky.
Genetics in Medicine. 24 (2022) 3 - p. S92-S93 , 2022

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

14

Diagnostic yield of a multigene sequencing approach in chil..:

Andrade, Nathalia Liberatoscioli Menezes ; Funari, Mariana Ferreira de Assis ; Malaquias, Alexsandra Christianne...
Endocrine Connections. 11 (2022) 12 - p. , 2022

Link: https://doi.org/10.1530/..

15

Outcomes in growth hormone-treated Noonan syndrome children..:

Jorge, Alexander A L ; Edouard, Thomas ; Maghnie, Mohamad...
Endocrine Connections. 11 (2022) 4 - p. , 2022

Link: https://doi.org/10.1530/..

1-15

Mehr Literatur finden