Early-onset hereditary isolated non-neurogenic orthostatic hypotension in a Swedish family

por Fagius, Jan, Klar, Joakim, Dahl, Niklas
Publicado 2023

FATP4 missense and nonsense mutations cause similar features in Ichthyosis Prematurity Syndrome

por Sobol, Maria, Dahl, Niklas, Klar, Joakim
Publicado 2011

Abnormal primary and permanent dentitions with ectodermal symptoms predict WNT10A deficiency

por Bergendal, Birgitta, Norderyd, Johanna, Zhou, Xiaolei, Klar, Joakim, Dahl, Niklas
Publicado 2016

A novel mutation in the Lipase H gene underlies autosomal recessive hypotrichosis and woolly hair

por Tariq, Muhammad, Azhar, Aysha, Baig, Shahid Mahmood, Dahl, Niklas, Klar, Joakim
Publicado 2012

Whole genome sequencing of familial isolated oesophagus atresia uncover shared structural variants

por Klar, Joakim, Engstrand-Lilja, Helene, Maqbool, Khurram, Mattisson, Jonas, Feuk, Lars, Dahl, Niklas
Publicado 2020

Inflammation and Interferon Signatures in Peripheral B-Lymphocytes and Sera of Individuals With Fibromyalgia

por Fineschi, Serena, Klar, Joakim, Gustafsson, Kristin Ayoola, Jonsson, Kent, Karlsson, Bo, Dahl, Niklas
Publicado 2022

Palmoplantar keratoderma and digital clubbing in 2 sisters with hypertrophic osteoarthropathy

por Eriksson, Daniel, Gyll, David, Virtanen, Marie, Dahl, Niklas, Klar, Joakim, Stattin, Eva-Lena
Publicado 2022

A novel variant in MYLK causes thoracic aortic dissections: genotypic and phenotypic description

por Hannuksela, Matias, Stattin, Eva-Lena, Klar, Joakim, Ameur, Adam, Johansson, Bengt, Sörensen, Karen, Carlberg, Bo
Publicado 2016

Expanding the phenotypic spectrum of osteogenesis imperfecta type V including heterotopic ossification of muscle origins and attachments

por Clewemar, Pantelis, Hailer, Nils P., Hailer, Yasmin, Klar, Joakim, Kindmark, Andreas, Ljunggren, Östen, Stattin, Eva‐Lena
Publicado 2019

Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy

por Schuster, Jens, Khan, Tahir Naeem, Tariq, Muhammad, Shaiq, Pakeeza Arzoo, Mäbert, Katrin, Baig, Shahid Mahmood, Klar, Joakim
Publicado 2014

Frizzled6 deficiency disrupts the differentiation process of nail development

por Cui, Chang-Yi, Klar, Joakim, Georgii-Heming, Patrik, Fröjmark, Anne-Sophie, Baig, Shahid M., Schlessinger, David, Dahl’, Niklas
Publicado 2013

Homozygous GRID2 missense mutation predicts a shift in the D-serine binding domain of GluD2 in a case with generalized brain atrophy and unusual clinical features

por Ali, Zafar, Zulfiqar, Shumaila, Klar, Joakim, Wikström, Johan, Ullah, Farid, Khan, Ayaz, Abdullah, Uzma, Baig, Shahid, Dahl, Niklas
Publicado 2017

Novel missense mutation in the RSPO4 gene in congenital hyponychia and evidence for a polymorphic initiation codon (p.M1I)

por Khan, Tahir Naeem, Klar, Joakim, Nawaz, Sadia, Jameel, Muhammad, Tariq, Muhammad, Malik, Naveed Altaf, Baig, Shahid M, Dahl, Niklas
Publicado 2012

Autosomal Recessive Transmission of a Rare KRT74 Variant Causes Hair and Nail Ectodermal Dysplasia: Allelism with Dominant Woolly Hair/Hypotrichosis

por Raykova, Doroteya, Klar, Joakim, Azhar, Aysha, Khan, Tahir Naeem, Malik, Naveed Altaf, Iqbal, Muhammad, Tariq, Muhammad, Baig, Shahid Mahmood, Dahl, Niklas
Publicado 2014

Cohort profile: the Swedish study of SUDden cardiac Death in the Young (SUDDY) 2000–2010: a complete nationwide cohort of SCDs

por Stattin, Eva-Lena, Hagström, Emil, Dahl, Niklas, Strömsöe, Anneli, Delgado-Vega, Angelica Maria, Klar, Joakim, Svennblad, Bodil, Börjesson, Mats, Wisten, Aase
Publicado 2022

DNA methylation changes in Down syndrome derived neural iPSCs uncover co-dysregulation of ZNF and HOX3 families of transcription factors

por Laan, Loora, Klar, Joakim, Sobol, Maria, Hoeber, Jan, Shahsavani, Mansoureh, Kele, Malin, Fatima, Ambrin, Zakaria, Muhammad, Annerén, Göran, Falk, Anna, Schuster, Jens, Dahl, Niklas
Publicado 2020

A novel AP4M1 mutation in autosomal recessive cerebral palsy syndrome and clinical expansion of AP-4 deficiency

por Jameel, Muhammad, Klar, Joakim, Tariq, Muhammad, Moawia, Abubakar, Altaf Malik, Naveed, Seema Waseem, Syeda, Abdullah, Uzma, Naeem Khan, Tahir, Raininko, Raili, Baig, Shahid Mahmood, Dahl, Niklas
Publicado 2014

Targeted high-throughput sequencing of candidate genes for chronic obstructive pulmonary disease

por Matsson, Hans, Söderhäll, Cilla, Einarsdottir, Elisabet, Lamontagne, Maxime, Gudmundsson, Sanna, Backman, Helena, Lindberg, Anne, Rönmark, Eva, Kere, Juha, Sin, Don, Postma, Dirkje S., Bossé, Yohan, Lundbäck, Bo, Klar, Joakim
Publicado 2016

Transcriptome and Proteome Profiling of Neural Induced Pluripotent Stem Cells from Individuals with Down Syndrome Disclose Dynamic Dysregulations of Key Pathways and Cellular Funct...

por Sobol, Maria, Klar, Joakim, Laan, Loora, Shahsavani, Mansoureh, Schuster, Jens, Annerén, Göran, Konzer, Anne, Mi, Jia, Bergquist, Jonas, Nordlund, Jessica, Hoeber, Jan, Huss, Mikael, Falk, Anna, Dahl, Niklas
Publicado 2019

Altered paracellular cation permeability due to a rare CLDN10B variant causes anhidrosis and kidney damage

por Klar, Joakim, Piontek, Jörg, Milatz, Susanne, Tariq, Muhammad, Jameel, Muhammad, Breiderhoff, Tilman, Schuster, Jens, Fatima, Ambrin, Asif, Maria, Sher, Muhammad, Mäbert, Katrin, Fromm, Anja, Baig, Shahid M., Günzel, Dorothee, Dahl, Niklas
Publicado 2017