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Braslavsky, Débora
44
results:
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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...
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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...
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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...
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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...
1-15