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PLoS ONE, ISSN 1932-6203, 12/2018, Volume 13, Issue 12, pp. e0207958 - e0207958
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 01/2011, Volume 88, Issue 1, pp. 106 - 114
Journal Article
Journal Article
Journal Article
PLoS Genetics, ISSN 1553-7390, 03/2013, Volume 9, Issue 3
  Human growth has an estimated heritability of about 80%-90%. Nevertheless, the underlying cause of shortness of stature remains unknown in the majority of... 
Signal transduction | Hypotheses | Genetic counseling | Disease | Genes | Genetics | Principal components analysis | Growth hormones | Genomes | Patients | Defects
Journal Article
Molecular Genetics & Genomic Medicine, ISSN 2324-9269, 09/2015, Volume 3, Issue 5, pp. 467 - 480
Seckel syndrome is a heterogeneous, autosomal recessive disorder marked by prenatal proportionate short stature, severe microcephaly, intellectual disability,... 
RAP | microcephaly | 215 | Seckel syndrome | CDK | primordial dwarfism | CEP | ATTACHMENT | PROTEIN | CENTROSOME | II MOPD-II | CEP215 | CELLULAR-FEATURES | GENE | GENETICS & HEREDITY | CEPHALIC PRIMORDIAL DWARFISM | BRAIN | PROGRAM | CDK5RAP2 | REVEALS | Mutation | Original
Journal Article
PLoS genetics, 2013, Volume 9, Issue 3, p. e1003365
Human growth has an estimated heritability of about 80%-90%. Nevertheless, the underlying cause of shortness of stature remains unknown in the majority of... 
Multifactorial Inheritance - genetics | Genetic Predisposition to Disease | Genome-Wide Association Study | Humans | Male | DNA Copy Number Variations - genetics | Gene Dosage | Haploinsufficiency | Dwarfism - genetics | Animals | Female | Mice | Polymorphism, Single Nucleotide
Journal Article
Molecular Genetics & Genomic Medicine, ISSN 2324-9269, 09/2015, Volume 3, Issue 5, pp. 467 - 480
Journal Article
Molecular genetics & genomic medicine, ISSN 2324-9269, 09/2015, Volume 3, Issue 5, p. 467
Seckel syndrome is a heterogeneous, autosomal recessive disorder marked by prenatal proportionate short stature, severe microcephaly, intellectual disability,... 
Journal Article
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