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Autosomal Recessive Osteogenesis Imperfecta Caused by a Novel Homozygous COL1A2 Mutation

Vertaisarvioitu
DOI
10.1007/s00223-018-0414-4
Costantini, Alice; Tournis, Symeon; Kämpe, Anders; Ul Ain, Noor; Taylan, Fulya; Doulgeraki, Artemis;...
Calcified tissue international2018

Autosomal recessive nonsyndromic hearing impairment in two Finnish families due to the population enriched CABP2 c.637+1G > T variant

Vertaisarvioitu
Avoin saatavuus
DOI
10.1002/mgg3.1866
Bharadwaj, Thashi; Schrauwen, Isabelle; Acharya, Anushree; Nouel-Saied, Liz M.; Väisänen, Marja-Leen...
Molecular genetics & genomic medicine2022

Writing resistance together

Vertaisarvioitu
Avoin saatavuus
DOI
10.1111/gwao.12441
Ahonen, Pasi; Blomberg, Annika; Doerr, KT; Einola, Katja; Elkina, Anna; Gao, Grace; Hambleton, Jenni...
Gender, work and organization2020

Novel compound heterozygous mutation in SACS gene leads to a milder autosomal recessive spastic ataxia of Charlevoix-Saguenay, ARSACS, in a Finnish family

Vertaisarvioitu
Avoin saatavuus
DOI
10.1002/ccr3.722
Palmio, Johanna;Kärppä, Mikko;Baumann, Peter;Penttilä, Sini;Moilanen, Jukka;Udd, BjarneUdd, Bjarne
Clinical case reports2016

Recessive TMOD1 mutation causes childhood cardiomyopathy

Vertaisarvioitu
Avoin saatavuus
DOI
10.1038/s42003-023-05670-9
Vasilescu, Catalina; Colpan, Mert; Ojala, Tiina H.; Manninen, Tuula; Mutka, Aino; Ylänen, Kaisa; Rah...
Communications biology2024

Genotype-phenotype correlations in recessive titinopathies

Vertaisarvioitu
DOI
10.1038/s41436-020-0914-2
Savarese, Marco; Diaz-Manera, Jordi; Ehrstedt, Christoffer; Rojas-Garcia, Ricardo; Saenz, Amets; Mue...
Genetics in medicine2020

GRINL1A Complex Transcription Unit Containing GCOM1, MYZAP, and POLR2M Genes Associates with Fully Penetrant Recessive Dilated Cardiomyopathy

Vertaisarvioitu
Avoin saatavuus
DOI
10.3389/fgene.2021.786705
Heliö, Krista; Mäyränpää, Mikko I.; Saarinen, Inka; Ahonen, Saija; Junnila, Heidi; Tommiska, Johanna...
Frontiers in genetics2021

Genetic dissection of crown rust resistance in oat and the identification of key adult plant resistance genes

Vertaisarvioitu
Avoin saatavuus
DOI
10.1002/tpg2.70059
Shariatipour, Nikwan; Yazdani, Mahboobeh; Carlsson, Anders; Bengtsson, Therése; Kianian, Shahryar F....
Plant genome2025

Clinical characterization, genetic mapping and whole-genome sequence analysis of a novel autosomal recessive intellectual disability syndrome

Vertaisarvioitu
DOI
10.1016/j.ejmg.2014.07.002
Kaasinen, Eevi; Rahikkala, Elisa; Koivunen, Peppi; Miettinen, Sirpa; Wamelink, Mirjam M. C.; Aavikko...
European journal of medical genetics2014

Antimicrobial resistance and resistance genes in Flavobacterium psychrophilum isolates from Turkey

Vertaisarvioitu
DOI
10.1016/j.aquaculture.2019.734293
IB Saticioglu; M Duman; P Smith; Tom Wiklund; S Altun
Aquaculture2019

Autosomal Recessive Osteogenesis Imperfecta Caused by a Novel Homozygous COL1A2 Mutation

Vertaisarvioitu
DOI
10.1007/s00223-018-0414-4
2018

Autosomal recessive nonsyndromic hearing impairment in two Finnish families due to the population enriched CABP2 c.637+1G > T variant

Vertaisarvioitu
Avoin saatavuus
DOI
10.1002/mgg3.1866
2022

Writing resistance together

Vertaisarvioitu
Avoin saatavuus
DOI
10.1111/gwao.12441
2020

Novel compound heterozygous mutation in SACS gene leads to a milder autosomal recessive spastic ataxia of Charlevoix-Saguenay, ARSACS, in a Finnish family

Vertaisarvioitu
Avoin saatavuus
DOI
10.1002/ccr3.722
2016

Recessive TMOD1 mutation causes childhood cardiomyopathy

Vertaisarvioitu
Avoin saatavuus
DOI
10.1038/s42003-023-05670-9
2024

Genotype-phenotype correlations in recessive titinopathies

Vertaisarvioitu
DOI
10.1038/s41436-020-0914-2
2020

GRINL1A Complex Transcription Unit Containing GCOM1, MYZAP, and POLR2M Genes Associates with Fully Penetrant Recessive Dilated Cardiomyopathy

Vertaisarvioitu
Avoin saatavuus
DOI
10.3389/fgene.2021.786705
2021

Genetic dissection of crown rust resistance in oat and the identification of key adult plant resistance genes

Vertaisarvioitu
Avoin saatavuus
DOI
10.1002/tpg2.70059
2025

Clinical characterization, genetic mapping and whole-genome sequence analysis of a novel autosomal recessive intellectual disability syndrome

Vertaisarvioitu
DOI
10.1016/j.ejmg.2014.07.002
2014

Antimicrobial resistance and resistance genes in Flavobacterium psychrophilum isolates from Turkey

Vertaisarvioitu
DOI
10.1016/j.aquaculture.2019.734293
2019