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European Journal of Neurology
|
January 28, 2026
Novel Clinical Insights From a Swedish RFC1 Spectrum Disorder Cohort
Victor Alm, Linda Säll, Kristin Samuelsson, 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.
Diseases (Basel, Switzerland)
|
March 27, 2026
First Reported Use of Recombinant Parathyroid Hormone in Kenny-Caffey Syndrome Type 2: A Case Report and Literature Review
Maja Djordjevic Milosevic, Anita Skakic, Marina Andjelkovic, 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.
American Journal of Human Genetics
|
March 3, 2015
Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features
Emma Tham, Anna Lindstrand, Avni Santani, et al.
Medrxiv : the Preprint Server for Health Sciences
|
August 20, 2025
Community-Driven Copy Number Variant Discovery at Scale: Results from a Rare Disease Genomics Hackathon
Ming Yin Lun, Jennifer E Posey, Jesse D Bengtsson, et al.
Bioinformatics (Oxford, England)
|
February 19, 2026
Nallo: a Nextflow pipeline for comprehensive human long-read genome analysis
Felix Lenner, Anders Jemt, Lucia Peña Pérez, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
January 14, 2017
A Large Inversion Involving GNAS Exon A/B and All Exons Encoding Gsα Is Associated With Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B)
Giedre Grigelioniene, Pasi I Nevalainen, Monica Reyes, et al.
Human Mutation
|
August 7, 2018
Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias
Maria Pettersson, Raquel Vaz, Anna Hammarsjö, et al.
Blood Advances
|
June 8, 2022
Linked-read whole-genome sequencing resolves common and private structural variants in multiple myeloma
Lucía Peña-Pérez, Nicolai Frengen, Julia Hauenstein, et al.
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Search research articles
Search
Showing results (61-70 of 127) with videos related to
Sort By:
Page
of 13
European Journal of Neurology
|
January 28, 2026
Novel Clinical Insights From a Swedish RFC1 Spectrum Disorder Cohort
Victor Alm, Linda Säll, Kristin Samuelsson, 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.
Diseases (Basel, Switzerland)
|
March 27, 2026
First Reported Use of Recombinant Parathyroid Hormone in Kenny-Caffey Syndrome Type 2: A Case Report and Literature Review
Maja Djordjevic Milosevic, Anita Skakic, Marina Andjelkovic, 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.
American Journal of Human Genetics
|
March 3, 2015
Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features
Emma Tham, Anna Lindstrand, Avni Santani, et al.
Medrxiv : the Preprint Server for Health Sciences
|
August 20, 2025
Community-Driven Copy Number Variant Discovery at Scale: Results from a Rare Disease Genomics Hackathon
Ming Yin Lun, Jennifer E Posey, Jesse D Bengtsson, et al.
Bioinformatics (Oxford, England)
|
February 19, 2026
Nallo: a Nextflow pipeline for comprehensive human long-read genome analysis
Felix Lenner, Anders Jemt, Lucia Peña Pérez, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research
|
January 14, 2017
A Large Inversion Involving GNAS Exon A/B and All Exons Encoding Gsα Is Associated With Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B)
Giedre Grigelioniene, Pasi I Nevalainen, Monica Reyes, et al.
Human Mutation
|
August 7, 2018
Alu-Alu mediated intragenic duplications in IFT81 and MATN3 are associated with skeletal dysplasias
Maria Pettersson, Raquel Vaz, Anna Hammarsjö, et al.
Blood Advances
|
June 8, 2022
Linked-read whole-genome sequencing resolves common and private structural variants in multiple myeloma
Lucía Peña-Pérez, Nicolai Frengen, Julia Hauenstein, et al.
Page
of 13