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Zoological Journal of the Linnean Society, ISSN 0024-4082, 03/2016, Volume 176, Issue 3, pp. 674 - 685
It is widely accepted that birds are rooted within theropod dinosaurs. However, there is controversy between palaeontological and developmental data regarding... 
clinodactyly | frame‐shift | micromelia | Dinosauria | hypophalangia | forelimb | acromelia | Frame-shift | Micromelia | Clinodactyly | Acromelia | Hypophalangia | Forelimb | PHYLOGENY | frame-shift | ALLIGATOR-MISSISSIPPIENSIS | CHINA | DINOSAURIA THEROPODA | HOX GENES | LIMB | ZOOLOGY | HOMOLOGY | EXPRESSION | BIRDS | NORTH-AMERICA
Journal Article
Journal Article
Gene, ISSN 0378-1119, 11/2019, Volume 718, p. 144072
Disorders of sex development (DSDs) are congenital conditions in which chromosomal, gonadal and sex is atypical. It is difficult to diagnose and manage... 
MAP3K1 | Disorders of sex development | SRY | Whole exome sequencing | 46,XY complete gonadal dysgenesis | VARIANTS | FRAME-SHIFT MUTATION | GENETICS & HEREDITY | FEMALES | PATIENT | SRY GENE | REGION
Journal Article
BMC Medical Genetics, ISSN 1471-2350, 2016, Volume 17, Issue 1, p. 55
Journal Article
Journal Article
The Journal of Dermatology, ISSN 0385-2407, 08/2018, Volume 45, Issue 8, pp. 978 - 985
Journal Article
PLoS Genetics, ISSN 1553-7390, 11/2017, Volume 13, Issue 11, pp. e1007105 - e1007105
As model organism-based research shifts from forward to reverse genetics approaches, largely due to the ease of genome editing technology, a low frequency of... 
MISSENSE | DESIGN | GENE | DISEASE | GENETICS & HEREDITY | SITES | MUTATIONS | IDENTIFICATION | Physiological aspects | Models | Messenger RNA | Mutagenesis | Index Medicus
Journal Article
Journal Article
Blood, ISSN 0006-4971, 03/2007, Volume 109, Issue 5, pp. 1971 - 1974
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 02/2019, Volume 62, Issue 2, pp. 144 - 148
Congenital analbuminemia (OMIM # 616000) is an extremely rare autosomal recessive disorder, caused by variations in the albumin gene (ALB), which is generally... 
Albumin gene | Congenital analbuminemia | Insertion | Human serum albumin | Frame-shift | DNA sequence analysis | MORTALITY | SPLICING MUTATION | GENETICS & HEREDITY
Journal Article
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 04/2010, Volume 95, Issue 4, pp. 1876 - 1888
Journal Article