E-LIB Suche - Ergebnisse für: Braslavsky, Débora

1

International Consensus Guideline on Small for Gestational ..:

Hokken-Koelega, Anita C S ; van der Steen, Manouk ; Boguszewski, Margaret C S...
info:eu-repo/semantics/altIdentifier/pmid/36635911. , 2023

Link: https://hdl.handle.net/2..

2

International Consensus Guideline on Small for Gestational ..:

Hokken-Koelega, Anita C S ; van der Steen, Manouk ; Boguszewski, Margaret C S...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10166266/. , 2023

Link: http://www.ncbi.nlm.nih...

3

A retrospective analysis of endocrine disease in sphingosin..:

Maharaj, Avinaash ; Kwong, Ruth ; Williams, Jack...
https://discovery.ucl.ac.uk/id/eprint/10153531/1/Achermann_A%20retrospective%20analysis%20of%20endocrine%20disease%20in%20sphingosine-1-phosphate%20lyase%20insufficiency_VoR.pdf. , 2022

Link: https://discovery.ucl.ac..

4

A retrospective analysis of endocrine disease in sphingosin..:

Maharaj, Avinaash ; Kwong, Ruth ; Williams, Jack...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9346324/. , 2022

Link: http://www.ncbi.nlm.nih...

5

Development and Validation of a Prediction Rule for Growth ..:

Clément, Florencia ; Grinspon, Romina P ; Yankelevich, Daniel...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7887303/. , 2021

Link: http://www.ncbi.nlm.nih...

6

High-throughput splicing assays identify missense and silen..:

Gergics, Peter ; Smith, Cathy ; Bando, Hironori...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2021.06.013. , 2021

Link: https://hal-amu.archives..

7

High-throughput splicing assays identify missense and silen..:

Gergics, Peter ; Smith, Cathy ; Bando, Hironori...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2021.06.013. , 2021

Link: https://amu.hal.science/..

8

High-throughput splicing assays identify missense and silen..:

Gergics, Peter ; Smith, Cathy ; Bando, Hironori...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ajhg.2021.06.013. , 2021

Link: https://amu.hal.science/..

9

MON-716 A Novel Human Heterozygous STAT5B Variant Leads to ..:

Landi, Estefania ; Karabatas, Liliana ; Ramirez, Laura...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7208618/. , 2020

Link: http://www.ncbi.nlm.nih...

10

MON-717 Novel GLI2 Mutations Identified in Pediatric Patien..:

Vishnopolska, Sebastian A ; Braslavsky, Debora ; Keselman, Ana Claudia...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7208733/. , 2020

Link: http://www.ncbi.nlm.nih...

11

SUN-245 Heterozygous GH1 p.R209H Variant within a Large Ped..:

Sanguineti, Nora ; Scaglia, Paula ; Braslavsky, Debora...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6553300/. , 2019

Link: http://www.ncbi.nlm.nih...

12

MON-472 Potentially Pathogenic Variants Identified in Patie..:

Vishnopolska, Sebastian ; Mortensen, Amanda ; Braslavsky, Debora...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6550668/. , 2019

Link: http://www.ncbi.nlm.nih...

13

p.R209H GH1 variant challenges short stature assessment:

Sanguineti, Nora ; Braslavsky, Debora ; Scaglia, Paula A...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7054144/. , 2019

Link: http://www.ncbi.nlm.nih...

14

Next generation sequencing panel based on single molecule m..:

Pérez Millán, María I ; Vishnopolska, Sebastian A ; Daly, Alexandre Z...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6081231/. , 2018

Link: http://www.ncbi.nlm.nih...

15

Sphingosine-1-phosphate lyase mutations cause primary adren..:

Prasad, Rathi ; Hadjidemetriou, Irene ; Maharaj, Avinaash...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5330744/. , 2017

Link: http://www.ncbi.nlm.nih...