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Sofrin‐Drucker, Efrat
14
results:
Search for persons
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Format
Online (14)
Mediatypes
Articles (Online) (7)
OpenAccess-fulltext (7)
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1
Discovery of a Novel Missense Variant in NLRP3 Causing Atyp..:
Birk‐Bachar, Merav
;
Cohen, Hadar
;
Sofrin‐Drucker, Efrat
...
Arthritis & Rheumatology. 76 (2024) 3 - p. 444-454 , 2024
Link:
https://doi.org/10.1002/..
?
2
Biallelic loss of EMC10 leads to mild to severe intellectua..:
Kaiyrzhanov, Rauan
;
Rocca, Clarissa
;
Suri, Mohnish
...
Annals of Clinical and Translational Neurology. 9 (2022) 7 - p. 1080-1089 , 2022
Link:
https://doi.org/10.1002/..
?
3
Implication of transcription factor FOXD2 dysfunction in sy..:
Riedhammer, Korbinian M.
;
Nguyen, Thanh-Minh T.
;
Koşukcu, Can
...
Kidney International. 105 (2024) 4 - p. 844-864 , 2024
Link:
https://doi.org/10.1016/..
?
4
High frequency of MEFV disease-causing variants in children..:
Abu Shtaya, Aasem
;
Orenstein, Naama
;
Bazak, Lily
...
Pediatric Research. , 2024
Link:
https://doi.org/10.1038/..
?
5
Teaching clinicians practical genomic medicine: 7 years' ex..:
Michaelson-Cohen, Rachel
;
Salzer-Sheelo, Liat
;
Sukenik-Halevy, Rivka
...
Genetics in Medicine. 22 (2020) 10 - p. 1703-1709 , 2020
Link:
https://doi.org/10.1038/..
?
6
The rare 13q33–q34 microdeletions: eight new patients and r..:
Sagi-Dain, Lena
;
Goldberg, Yael
;
Peleg, Amir
...
Human Genetics. 138 (2019) 10 - p. 1145-1153 , 2019
Link:
https://doi.org/10.1007/..
?
7
The Natural History of Metabolic Comorbidities in Turner Sy..:
Lebenthal, Yael
;
Levy, Sigal
;
Sofrin-Drucker, Efrat
...
Frontiers in Endocrinology. 9 (2018) - p. , 2018
Link:
https://doi.org/10.3389/..
?
8
Biallelic loss of EMC10 leads to mild to severe intellectua..:
Kaiyrzhanov, Rauan
;
Rocca, Clarissa
;
Suri, Mohnish
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9268894/. , 2022
Link:
http://www.ncbi.nlm.nih...
?
9
Biallelic loss of EMC10 leads to mild to severe intellectua..:
Rauan Kaiyrzhanov
;
Clarissa Rocca
;
Mohnish Suri
...
https://doi.org/10.1002/acn3.51602. , 2022
Link:
https://doi.org/10.1002/..
?
10
Expanding the Phenotypic Spectrum of GPI Anchoring Deficien..:
Castle, Alison M.R
;
Salian, Smrithi
;
Bassan, Haim
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8532669/. , 2021
Link:
http://www.ncbi.nlm.nih...
?
11
Expanding the Phenotypic Spectrum of GPI Anchoring Deficien..:
Castle, Alison, M R
;
Salian, Smrithi
;
Bassan, Haim
...
info:eu-repo/semantics/altIdentifier/doi/10.1212/NXG.0000000000000631. , 2021
Link:
https://hal.sorbonne-uni..
?
12
Expanding the Phenotypic Spectrum of GPI Anchoring Deficien..:
Heron, Delphine
;
Keren, Boris
;
Johnstone, Devon
...
qt5hr2n2tv. , 2021
Link:
https://escholarship.org..
?
13
Expanding the Phenotypic Spectrum of GPI Anchoring Deficien..:
Castle, Alison
;
Salian, Smrithi
;
Bassan, Haim
...
info:eu-repo/semantics/altIdentifier/doi/10.1212/NXG.0000000000000631. , 2021
Link:
https://hal.sorbonne-uni..
?
14
The Natural History of Metabolic Comorbidities in Turner Sy..:
Yael Lebenthal
;
Sigal Levy
;
Efrat Sofrin-Drucker
...
http://journal.frontiersin.org/article/10.3389/fendo.2018.00027/full. , 2018
Link:
https://doi.org/10.3389/..
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