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L Beales

Showing results (131-140 of 194) with videos related to

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Clinical Genetics|March 12, 2014
Genetic predictors of cardiovascular morbidity in Bardet-Biedl syndromeE Forsythe, K Sparks, B E Hoskins, et al.
Journal of Cell Science|February 26, 2005
MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesisJun Chul Kim, Young Y Ou, Jose L Badano, et al.
Human Genetics|November 6, 2010
Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individualsSabine Janssen, Gokul Ramaswami, Erica E Davis, et al.
Human Molecular Genetics|November 2, 2014
A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathiesRanad Shaheen, Miriam Schmidts, Eissa Faqeih, et al.
Nature Genetics|October 2, 2007
Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt responseJantje M Gerdes, Yangfan Liu, Norann A Zaghloul, et al.
American Journal of Human Genetics|April 5, 2003
Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndromePhilip L Beales, Jose L Badano, Alison J Ross, et al.
The Journal of Clinical Endocrinology and Metabolism|April 27, 2026
Endocrine Characteristics in Bardet Biedl Syndrome from a Large Single-Centre Paediatric Multidisciplinary ClinicRachel S Varughese, Divya Pujari, Elizabeth Hatton, et al.
Nature Genetics|April 27, 2004
The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progressionJun Chul Kim, Jose L Badano, Sonja Sibold, et al.
The Journal of Allergy and Clinical Immunology|August 15, 2016
Mutations in linker for activation of T cells (LAT) lead to a novel form of severe combined immunodeficiencyChiara Bacchelli, Federico A Moretti, Marlene Carmo, et al.
The Journal of Clinical Endocrinology and Metabolism|February 7, 2018
The Endocrine and Metabolic Characteristics of a Large Bardet-Biedl Syndrome Clinic PopulationSafa Mujahid, Katharine F Hunt, Yee S Cheah, et al.
Pageof 20

Showing results (131-140 of 194) with videos related to

Sort By:
Pageof 20
Clinical Genetics|March 12, 2014
Genetic predictors of cardiovascular morbidity in Bardet-Biedl syndromeE Forsythe, K Sparks, B E Hoskins, et al.
Journal of Cell Science|February 26, 2005
MKKS/BBS6, a divergent chaperonin-like protein linked to the obesity disorder Bardet-Biedl syndrome, is a novel centrosomal component required for cytokinesisJun Chul Kim, Young Y Ou, Jose L Badano, et al.
Human Genetics|November 6, 2010
Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individualsSabine Janssen, Gokul Ramaswami, Erica E Davis, et al.
Human Molecular Genetics|November 2, 2014
A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathiesRanad Shaheen, Miriam Schmidts, Eissa Faqeih, et al.
Nature Genetics|October 2, 2007
Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt responseJantje M Gerdes, Yangfan Liu, Norann A Zaghloul, et al.
American Journal of Human Genetics|April 5, 2003
Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndromePhilip L Beales, Jose L Badano, Alison J Ross, et al.
The Journal of Clinical Endocrinology and Metabolism|April 27, 2026
Endocrine Characteristics in Bardet Biedl Syndrome from a Large Single-Centre Paediatric Multidisciplinary ClinicRachel S Varughese, Divya Pujari, Elizabeth Hatton, et al.
Nature Genetics|April 27, 2004
The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progressionJun Chul Kim, Jose L Badano, Sonja Sibold, et al.
The Journal of Allergy and Clinical Immunology|August 15, 2016
Mutations in linker for activation of T cells (LAT) lead to a novel form of severe combined immunodeficiencyChiara Bacchelli, Federico A Moretti, Marlene Carmo, et al.
The Journal of Clinical Endocrinology and Metabolism|February 7, 2018
The Endocrine and Metabolic Characteristics of a Large Bardet-Biedl Syndrome Clinic PopulationSafa Mujahid, Katharine F Hunt, Yee S Cheah, et al.
Pageof 20