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Anna Lindstrand

Showing results (71-80 of 127) with videos related to

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Journal of Medical Genetics|May 3, 2013
A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGTMalin Kvarnung, Daniel Nilsson, Anna Lindstrand, et al.
Journal of Medical Genetics|December 5, 2014
CTNND2-a candidate gene for reading problems and mild intellectual disabilityWolfgang Hofmeister, Daniel Nilsson, Alexandra Topa, et al.
European Journal of Human Genetics : EJHG|June 11, 2025
Genome sequencing in a cohort of 32 fetuses with genetic skeletal disordersHillevi Lindelöf, Anna Hammarsjö, Ulrika Voss, et al.
Human Molecular Genetics|June 25, 2015
WNT3 involvement in human bladder exstrophy and cloaca development in zebrafishIzabella Baranowska Körberg, Wolfgang Hofmeister, Ellen Markljung, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|August 5, 2017
PLS3 Deletions Lead to Severe Spinal Osteoporosis and Disturbed Bone Matrix MineralizationAnders J Kämpe, Alice Costantini, Yael Levy-Shraga, et al.
Human Mutation|April 27, 2018
Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypesChristopher M Grochowski, Shen Gu, Bo Yuan, et al.
American Journal of Medical Genetics. Part A|October 13, 2020
Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndromeChaofan Zhang, Juliana F Mazzeu, Jesper Eisfeldt, et al.
Genome Medicine|January 9, 2026
Long-read genome sequencing enhances diagnostics of pediatric neurological disordersMarlene Ek, Malin Kvarnung, Esmee Ten Berk de Boer, et al.
Frontiers in Genetics|July 10, 2023
Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndromeAlexandra Garza Flores, Ida Nordgren, Maria Pettersson, et al.
Frontiers in Genetics|July 13, 2019
Truncating Variant in <i>Myof</i> Gene Is Associated With Limb-Girdle Type Muscular Dystrophy and CardiomyopathyArtem Kiselev, Raquel Vaz, Anastasia Knyazeva, et al.
Pageof 13

Showing results (71-80 of 127) with videos related to

Sort By:
Pageof 13
Journal of Medical Genetics|May 3, 2013
A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGTMalin Kvarnung, Daniel Nilsson, Anna Lindstrand, et al.
Journal of Medical Genetics|December 5, 2014
CTNND2-a candidate gene for reading problems and mild intellectual disabilityWolfgang Hofmeister, Daniel Nilsson, Alexandra Topa, et al.
European Journal of Human Genetics : EJHG|June 11, 2025
Genome sequencing in a cohort of 32 fetuses with genetic skeletal disordersHillevi Lindelöf, Anna Hammarsjö, Ulrika Voss, et al.
Human Molecular Genetics|June 25, 2015
WNT3 involvement in human bladder exstrophy and cloaca development in zebrafishIzabella Baranowska Körberg, Wolfgang Hofmeister, Ellen Markljung, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|August 5, 2017
PLS3 Deletions Lead to Severe Spinal Osteoporosis and Disturbed Bone Matrix MineralizationAnders J Kämpe, Alice Costantini, Yael Levy-Shraga, et al.
Human Mutation|April 27, 2018
Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypesChristopher M Grochowski, Shen Gu, Bo Yuan, et al.
American Journal of Medical Genetics. Part A|October 13, 2020
Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndromeChaofan Zhang, Juliana F Mazzeu, Jesper Eisfeldt, et al.
Genome Medicine|January 9, 2026
Long-read genome sequencing enhances diagnostics of pediatric neurological disordersMarlene Ek, Malin Kvarnung, Esmee Ten Berk de Boer, et al.
Frontiers in Genetics|July 10, 2023
Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndromeAlexandra Garza Flores, Ida Nordgren, Maria Pettersson, et al.
Frontiers in Genetics|July 13, 2019
Truncating Variant in <i>Myof</i> Gene Is Associated With Limb-Girdle Type Muscular Dystrophy and CardiomyopathyArtem Kiselev, Raquel Vaz, Anastasia Knyazeva, et al.
Pageof 13