Results 121 to 130 of about 2,496 (133)

Familial hyperinsulinism with apparent autosomal dominant inheritance: Clinical and genetic differences from the autosomal recessive variant

Journal of Pediatrics, 1998
Paul S Thornton, Benjamin Glaser, Ken C Chiu   +2 more
exaly  

Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation

Genetics in Medicine, 2017
Dorota Monies, Sateesh Maddirevula, Wesam Kurdi   +2 more
exaly  

Opacity and transparency in vowel harmony

2018
Harry van der Hulst, Van Der Hulst Harry   +1 more
exaly  

Autosomal dominant Marfan syndrome caused by a previously reported recessive FBN1 variant

Molecular Genetics & Genomic Medicine, 2019
Eline Overwater, , Phillis Lakeman
exaly  

Dominant domains in vowel harmony: A structural approach to a linear asymmetry

Natural Language and Linguistic Theory
Maria Kouneli, Jonathan David Bobaljik, Jonathan David Bobaljik   +2 more
exaly  

Recurrence of perinatal lethal osteogenesis imperfecta in sibships: Parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance

Genetics in Medicine, 2011
Melanie Pepin, Ulrike Schwarze, Peter H Byers   +2 more
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A partially supervised classification approach to dominant and recessive human disease gene prediction

Computer Methods and Programs in Biomedicine, 2007
Borja Calvo, Núria Lopez-Bigas, Simon J Furney   +2 more
exaly  

Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia

Brain, 2003
N B Romero, Nicole Monnier, Joel Lunardi   +2 more
exaly  

X-linked recessive ichthyosis and autosomal dominant ichthyosis segregating in the same family

Archives of Dermatological Research, 1981
H Traupe, H H Ropers, C R Müller
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Dominant and recessive solutions for second order self-adjoint linear difference equations

Applied Mathematics Letters, 2005
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