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European Journal of Human Genetics : EJHG|July 9, 2015
A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophyLam Son Nguyen, Taiane Schneider, Marlène Rio, et al.
European Journal of Human Genetics : EJHG|July 16, 2015
Impact of presymptomatic genetic testing on young adults: a systematic reviewLea Godino, Daniela Turchetti, Leigh Jackson, et al.
European Journal of Human Genetics : EJHG|July 16, 2015
A novel AIFM1 mutation expands the phenotype to an infantile motor neuron diseaseDaria Diodato, Giorgio Tasca, Daniela Verrigni, et al.
European Journal of Human Genetics : EJHG|July 16, 2015
Early-onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patientAffef Abidi, Cécile Mignon-Ravix, Pierre Cacciagli, et al.
European Journal of Human Genetics : EJHG|April 23, 2015
A rare variant in MCF2L identified using exclusion linkage in a pedigree with premature atherosclerosisStephanie Maiwald, Mahdi M Motazacker, Julian C van Capelleveen, et al.
European Journal of Human Genetics : EJHG|April 23, 2015
Leveraging ancestry to improve causal variant identification in exome sequencing for monogenic disordersRobert Brown, Hane Lee, Ascia Eskin, et al.
European Journal of Human Genetics : EJHG|April 23, 2015
Nail-Patella Syndrome: clinical and molecular data in 55 families raising the hypothesis of a genetic heterogeneityJamal Ghoumid, Florence Petit, Muriel Holder-Espinasse, et al.
European Journal of Human Genetics : EJHG|August 4, 2016
Mitochondrial hepato-encephalopathy due to deficiency of QIL1/MIC13 (C19orf70), a MICOS complex subunitAvraham Zeharia, Jonathan R Friedman, Ana Tobar, et al.
European Journal of Human Genetics : EJHG|October 25, 2019
Correction to: The Dutch Y-chromosomal landscapeEveline Altena, Risha Smeding, Kristiaan J van der Gaag, et al.
European Journal of Human Genetics : EJHG|May 8, 2020
Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwideClaudia Gonzaga-Jauregui, Gozde Yesil, Harikiran Nistala, et al.
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