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Frontiers in Genetics
|
February 21, 2022
Partial Monosomy 21 Mirrors Gene Expression of Trisomy 21 in a Patient-Derived Neuroepithelial Stem Cell Model
Jakob Schuy, Jesper Eisfeldt, Maria Pettersson, et al.
American Journal of Medical Genetics. Part A
|
February 11, 2026
Genome Sequencing in 19 Families With Bladder Exstrophy and Epispadias Complex Indicates Involvement of the ADGR-Gene Family
Agneta Nordenskjöld, Samara Alm, Jesper Eisfeldt, et al.
Scientific Reports
|
January 23, 2025
A de novo, mosaic and complex chromosome 21 rearrangement causes APP triplication and familial autosomal dominant early onset Alzheimer disease
Emma Ehn, Jesper Eisfeldt, Jose M Laffita-Mesa, et al.
Scientific Reports
|
March 25, 2025
Author Correction: A de novo, mosaic and complex chromosome 21 rearrangement causes APP triplication and familial autosomal dominant early onset Alzheimer disease
Emma Ehn, Jesper Eisfeldt, Jose M Laffita-Mesa, et al.
Acta Dermato-Venereologica
|
January 28, 2026
The Role of the Cysteamine Dioxygenase (ADO) Gene in Atopic Dermatitis
Sailan Wang, Raquel Vaz, Josefin Lysell, et al.
American Journal of Medical Genetics. Part A
|
November 8, 2024
Structural Variants in COL1A1 and COL1A2 in Osteogenesis Imperfecta
Dominyka Batkovskyte, Diana Swolin-Eide, Anna Hammarsjö, et al.
Genome Research
|
March 25, 2026
Centromeric instability and chromoanasynthesis observed in nine supernumerary marker chromosomes resolved with long-read genome sequencing
Kristine Bilgrav Saether, Angelo Salazar Mantero, Marlene Ek, et al.
Plos Genetics
|
February 9, 2019
Comprehensive structural variation genome map of individuals carrying complex chromosomal rearrangements
Jesper Eisfeldt, Maria Pettersson, Francesco Vezzi, et al.
BMC Medical Genetics
|
May 3, 2020
Rare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia: a case report
Andrea Bieder, Elisabet Einarsdottir, Hans Matsson, et al.
Frontiers in Genetics
|
September 13, 2021
Chromoanagenesis Event Underlies a <i>de novo</i> Pericentric and Multiple Paracentric Inversions in a Single Chromosome Causing Coffin-Siris Syndrome
Christopher M Grochowski, Ana C V Krepischi, Jesper Eisfeldt, et al.
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Showing results (31-40 of 68) with videos related to
Sort By:
Page
of 7
Frontiers in Genetics
|
February 21, 2022
Partial Monosomy 21 Mirrors Gene Expression of Trisomy 21 in a Patient-Derived Neuroepithelial Stem Cell Model
Jakob Schuy, Jesper Eisfeldt, Maria Pettersson, et al.
American Journal of Medical Genetics. Part A
|
February 11, 2026
Genome Sequencing in 19 Families With Bladder Exstrophy and Epispadias Complex Indicates Involvement of the ADGR-Gene Family
Agneta Nordenskjöld, Samara Alm, Jesper Eisfeldt, et al.
Scientific Reports
|
January 23, 2025
A de novo, mosaic and complex chromosome 21 rearrangement causes APP triplication and familial autosomal dominant early onset Alzheimer disease
Emma Ehn, Jesper Eisfeldt, Jose M Laffita-Mesa, et al.
Scientific Reports
|
March 25, 2025
Author Correction: A de novo, mosaic and complex chromosome 21 rearrangement causes APP triplication and familial autosomal dominant early onset Alzheimer disease
Emma Ehn, Jesper Eisfeldt, Jose M Laffita-Mesa, et al.
Acta Dermato-Venereologica
|
January 28, 2026
The Role of the Cysteamine Dioxygenase (ADO) Gene in Atopic Dermatitis
Sailan Wang, Raquel Vaz, Josefin Lysell, et al.
American Journal of Medical Genetics. Part A
|
November 8, 2024
Structural Variants in COL1A1 and COL1A2 in Osteogenesis Imperfecta
Dominyka Batkovskyte, Diana Swolin-Eide, Anna Hammarsjö, et al.
Genome Research
|
March 25, 2026
Centromeric instability and chromoanasynthesis observed in nine supernumerary marker chromosomes resolved with long-read genome sequencing
Kristine Bilgrav Saether, Angelo Salazar Mantero, Marlene Ek, et al.
Plos Genetics
|
February 9, 2019
Comprehensive structural variation genome map of individuals carrying complex chromosomal rearrangements
Jesper Eisfeldt, Maria Pettersson, Francesco Vezzi, et al.
BMC Medical Genetics
|
May 3, 2020
Rare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia: a case report
Andrea Bieder, Elisabet Einarsdottir, Hans Matsson, et al.
Frontiers in Genetics
|
September 13, 2021
Chromoanagenesis Event Underlies a <i>de novo</i> Pericentric and Multiple Paracentric Inversions in a Single Chromosome Causing Coffin-Siris Syndrome
Christopher M Grochowski, Ana C V Krepischi, Jesper Eisfeldt, et al.
Page
of 7