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Baylor-Hopkins Center for Mendelian Genomics Selected Research

Robinow Syndrome

1/2018WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome.
3/2016DVL3 Alleles Resulting in a -1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome.

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Baylor-Hopkins Center for Mendelian Genomics Research Topics

Disease

2Robinow Syndrome
01/2018 - 03/2016
1Hereditary Spastic Paraplegia
11/2020
1Intestinal Pseudo-Obstruction (Intestinal Pseudoobstruction)
01/2020
1Deafness (Deaf Mutism)
01/2020
1Microcephaly
11/2019
1HEM dysplasia
01/2019
1Arthrogryposis
01/2019
1Strudwick syndrome
11/2017
1Unilateral Hearing Loss
11/2015
1Waardenburg syndrome type 2
11/2015
1Arthritis (Polyarthritis)
06/2015
1Interstitial Lung Diseases (Interstitial Lung Disease)
06/2015
1Joint Diseases (Joint Disease)
06/2015
1Anophthalmos (Anophthalmia)
06/2014
1Intellectual Disability (Idiocy)
06/2014

Drug/Important Bio-Agent (IBA)

2Proteins (Proteins, Gene)FDA Link
11/2019 - 01/2018
1Peptide Hydrolases (Proteases)FDA Link
11/2020
1DNA (Deoxyribonucleic Acid)IBA
01/2020
1Arginine (L-Arginine)FDA Link
01/2020
1TubulinIBA
11/2019
1Lamin B ReceptorIBA
01/2019
1Biological ProductsIBA
01/2019
1Ryanodine Receptor Calcium Release Channel (Ryanodine Receptor)IBA
01/2019
1Fibronectins (Fibronectin)IBA
11/2017
1Nonsense Codon (Nonsense Mutation)IBA
03/2016
1Stem Cell FactorIBA
11/2015
1AutoantibodiesIBA
06/2015
1Carrier Proteins (Binding Protein)IBA
06/2015
1Amino AcidsFDA Link
06/2014