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Showing results (51-60 of 60) with videos related to

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Cell|February 10, 1995
Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locusM Vikkula, E C Mariman, V C Lui, et al.
American Journal of Human Genetics|May 12, 2001
The molecular basis of X-linked spondyloepiphyseal dysplasia tardaA K Gedeon, G E Tiller, M Le Merrer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 17, 2005
Safety and efficacy of enzyme replacement therapy in combination with hematopoietic stem cell transplantation in Hurler syndromeSatkiran S Grewal, Robert Wynn, Jose E Abdenur, et al.
Journal of Inherited Metabolic Disease|February 17, 2017
Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequencesSaskia B Wortmann, Margaret A Chen, Roberto Colombo, et al.
Pediatric Neurology|September 21, 2023
De Novo Variants in RAB11B Cause Various Degrees of Global Developmental Delay and Intellectual Disability in ChildrenNatalie Ahmad, Walid Fazeli, Sophia Schließke, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 18, 2020
Defining the clinical phenotype of Saul-Wilson syndromeCarlos R Ferreira, Wadih M Zein, Laryssa A Huryn, et al.
American Journal of Human Genetics|October 6, 2018
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan GlycosylationCarlos R Ferreira, Zhi-Jie Xia, Aurélie Clément, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 4, 2021
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behaviorHolly K Harris, Tojo Nakayama, Jenny Lai, et al.
American Journal of Human Genetics|July 16, 2024
Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromesDmitrijs Rots, Sanaa Choufani, Victor Faundes, et al.
American Journal of Human Genetics|May 17, 2023
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorderDmitrijs Rots, Taryn E Jakub, Crystal Keung, et al.
Pageof 6

Showing results (51-60 of 60) with videos related to

Sort By:
Pageof 6
You have reached the last page of results.This site can display upto 60 results.
Cell|February 10, 1995
Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locusM Vikkula, E C Mariman, V C Lui, et al.
American Journal of Human Genetics|May 12, 2001
The molecular basis of X-linked spondyloepiphyseal dysplasia tardaA K Gedeon, G E Tiller, M Le Merrer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 17, 2005
Safety and efficacy of enzyme replacement therapy in combination with hematopoietic stem cell transplantation in Hurler syndromeSatkiran S Grewal, Robert Wynn, Jose E Abdenur, et al.
Journal of Inherited Metabolic Disease|February 17, 2017
Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequencesSaskia B Wortmann, Margaret A Chen, Roberto Colombo, et al.
Pediatric Neurology|September 21, 2023
De Novo Variants in RAB11B Cause Various Degrees of Global Developmental Delay and Intellectual Disability in ChildrenNatalie Ahmad, Walid Fazeli, Sophia Schließke, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 18, 2020
Defining the clinical phenotype of Saul-Wilson syndromeCarlos R Ferreira, Wadih M Zein, Laryssa A Huryn, et al.
American Journal of Human Genetics|October 6, 2018
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan GlycosylationCarlos R Ferreira, Zhi-Jie Xia, Aurélie Clément, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 4, 2021
Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behaviorHolly K Harris, Tojo Nakayama, Jenny Lai, et al.
American Journal of Human Genetics|July 16, 2024
Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromesDmitrijs Rots, Sanaa Choufani, Victor Faundes, et al.
American Journal of Human Genetics|May 17, 2023
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorderDmitrijs Rots, Taryn E Jakub, Crystal Keung, et al.
Pageof 6