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Methods in Molecular Biology (Clifton, N.J.)
|
August 30, 2025
Hybrid Sequencing Characterization of Complex Chromosomal Rearrangements
Anna Lindstrand, Jesper Eisfeldt
Clinical Case Reports
|
June 29, 2022
Expanding the phenotype of the recurrent truncating eIF2γ pathogenic variant p.(Ile465Serfs*4) identified in two brothers with MEHMO syndrome
Sofia Ygberg, Anna Lindstrand
Lakartidningen
|
February 26, 2020
[Premature ovarian insufficiency - patients are underdiagnosed and undertreated]
Ameli Norling, Anna Lindstrand, Angelica Hirschberg
International Journal of Molecular Sciences
|
March 17, 2019
Zebrafish Models of Neurodevelopmental Disorders: Limitations and Benefits of Current Tools and Techniques
Raquel Vaz, Wolfgang Hofmeister, Anna Lindstrand
Nature Genetics
|
May 7, 2025
Toward clinical long-read genome sequencing for rare diseases
Jesper Eisfeldt, Marlene Ek, Magnus Nordenskjöld, et al.
American Journal of Medical Genetics. Part A
|
April 5, 2023
Expanding the phenotype of Seckel syndrome associated with biallelic loss-of-function variants in CEP63
Nadja Pekkola Pacheco, Maria Pettersson, Anna Lindstrand, et al.
Journal of Pediatric Urology
|
March 31, 2023
Precision medicine and rare diseases in pediatric urology
Ann Nordgren, Anna Lindstrand, Hsi-Yang Wu, et al.
Molecular Biology and Evolution
|
September 28, 2019
Discovery of Novel Sequences in 1,000 Swedish Genomes
Jesper Eisfeldt, Gustaf Mårtensson, Adam Ameur, et al.
Plos One
|
March 27, 2018
AMYCNE: Confident copy number assessment using whole genome sequencing data
Jesper Eisfeldt, Daniel Nilsson, Johanna C Andersson-Assarsson, et al.
F1000Research
|
August 9, 2017
<i>TIDDIT</i>, an efficient and comprehensive structural variant caller for massive parallel sequencing data
Jesper Eisfeldt, Francesco Vezzi, Pall Olason, et al.
Page
of 13
Search research articles
Search
Showing results (1-10 of 127) with videos related to
Sort By:
Page
of 13
Methods in Molecular Biology (Clifton, N.J.)
|
August 30, 2025
Hybrid Sequencing Characterization of Complex Chromosomal Rearrangements
Anna Lindstrand, Jesper Eisfeldt
Clinical Case Reports
|
June 29, 2022
Expanding the phenotype of the recurrent truncating eIF2γ pathogenic variant p.(Ile465Serfs*4) identified in two brothers with MEHMO syndrome
Sofia Ygberg, Anna Lindstrand
Lakartidningen
|
February 26, 2020
[Premature ovarian insufficiency - patients are underdiagnosed and undertreated]
Ameli Norling, Anna Lindstrand, Angelica Hirschberg
International Journal of Molecular Sciences
|
March 17, 2019
Zebrafish Models of Neurodevelopmental Disorders: Limitations and Benefits of Current Tools and Techniques
Raquel Vaz, Wolfgang Hofmeister, Anna Lindstrand
Nature Genetics
|
May 7, 2025
Toward clinical long-read genome sequencing for rare diseases
Jesper Eisfeldt, Marlene Ek, Magnus Nordenskjöld, et al.
American Journal of Medical Genetics. Part A
|
April 5, 2023
Expanding the phenotype of Seckel syndrome associated with biallelic loss-of-function variants in CEP63
Nadja Pekkola Pacheco, Maria Pettersson, Anna Lindstrand, et al.
Journal of Pediatric Urology
|
March 31, 2023
Precision medicine and rare diseases in pediatric urology
Ann Nordgren, Anna Lindstrand, Hsi-Yang Wu, et al.
Molecular Biology and Evolution
|
September 28, 2019
Discovery of Novel Sequences in 1,000 Swedish Genomes
Jesper Eisfeldt, Gustaf Mårtensson, Adam Ameur, et al.
Plos One
|
March 27, 2018
AMYCNE: Confident copy number assessment using whole genome sequencing data
Jesper Eisfeldt, Daniel Nilsson, Johanna C Andersson-Assarsson, et al.
F1000Research
|
August 9, 2017
<i>TIDDIT</i>, an efficient and comprehensive structural variant caller for massive parallel sequencing data
Jesper Eisfeldt, Francesco Vezzi, Pall Olason, et al.
Page
of 13