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European Journal of Medical Genetics
|
December 5, 2021
Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant
Elke de Boer, Burcu Yaldiz, Anne-Sophie Denommé-Pichon, et al.
Clinical Genetics
|
March 5, 2026
Functional Data Strengthen Clinical Validation of PhenoScore Phenotype-Guided AI for ANKRD11 Missense Variants
Evi Andriessen, Elke de Boer, Gholson J Lyon, et al.
American Journal of Medical Genetics. Part A
|
February 22, 2023
History and highlights of the teratological collection in the Narrenturm, Vienna (Austria)
Lucas L Boer, Susanne Gerit Kircher, Helga Rehder, et al.
Nature Communications
|
October 27, 2023
Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation
Wouter Steyaert, Lonneke Haer-Wigman, Rolph Pfundt, et al.
European Journal of Human Genetics : EJHG
|
July 16, 2021
Correction: A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis
Elke de Boer, Charlotte W Ockeloen, Leslie Matalonga, et al.
European Journal of Human Genetics : EJHG
|
June 2, 2021
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis
Elke de Boer, Charlotte W Ockeloen, Leslie Matalonga, et al.
HGG Advances
|
May 22, 2023
A complex structural variant near <i>SOX3</i> causes X-linked split-hand/foot malformation
Elke de Boer, Carlo Marcelis, Kornelia Neveling, et al.
American Journal of Medical Genetics. Part A
|
July 17, 2025
Growth Hormone Treatment in Patients With KBG Syndrome: Novel Insights, Challenges and Recommendations From Six New Patients and Literature Review
Sietse M Aukema, Kim Vandenput, Emanuela Scarano, et al.
NPJ Genomic Medicine
|
October 27, 2024
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses
German Demidov, Burcu Yaldiz, José Garcia-Pelaez, et al.
Lab Animal
|
June 24, 2024
Model matchmaking via the Solve-RD Rare Disease Models & Mechanisms Network (RDMM-Europe)
Kornelia Ellwanger, Julie A Brill, Elke de Boer, et al.
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Search research articles
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Showing results (1-10 of 30) with videos related to
Sort By:
Page
of 3
European Journal of Medical Genetics
|
December 5, 2021
Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant
Elke de Boer, Burcu Yaldiz, Anne-Sophie Denommé-Pichon, et al.
Clinical Genetics
|
March 5, 2026
Functional Data Strengthen Clinical Validation of PhenoScore Phenotype-Guided AI for ANKRD11 Missense Variants
Evi Andriessen, Elke de Boer, Gholson J Lyon, et al.
American Journal of Medical Genetics. Part A
|
February 22, 2023
History and highlights of the teratological collection in the Narrenturm, Vienna (Austria)
Lucas L Boer, Susanne Gerit Kircher, Helga Rehder, et al.
Nature Communications
|
October 27, 2023
Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation
Wouter Steyaert, Lonneke Haer-Wigman, Rolph Pfundt, et al.
European Journal of Human Genetics : EJHG
|
July 16, 2021
Correction: A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis
Elke de Boer, Charlotte W Ockeloen, Leslie Matalonga, et al.
European Journal of Human Genetics : EJHG
|
June 2, 2021
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis
Elke de Boer, Charlotte W Ockeloen, Leslie Matalonga, et al.
HGG Advances
|
May 22, 2023
A complex structural variant near <i>SOX3</i> causes X-linked split-hand/foot malformation
Elke de Boer, Carlo Marcelis, Kornelia Neveling, et al.
American Journal of Medical Genetics. Part A
|
July 17, 2025
Growth Hormone Treatment in Patients With KBG Syndrome: Novel Insights, Challenges and Recommendations From Six New Patients and Literature Review
Sietse M Aukema, Kim Vandenput, Emanuela Scarano, et al.
NPJ Genomic Medicine
|
October 27, 2024
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses
German Demidov, Burcu Yaldiz, José Garcia-Pelaez, et al.
Lab Animal
|
June 24, 2024
Model matchmaking via the Solve-RD Rare Disease Models & Mechanisms Network (RDMM-Europe)
Kornelia Ellwanger, Julie A Brill, Elke de Boer, et al.
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