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Joshua D Smith

Showing results (101-110 of 194) with videos related to

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European Journal of Human Genetics : EJHG|December 24, 2015
Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disabilityMuhammad Ansar, Abid Jan, Regie Lyn P Santos-Cortez, et al.
Human Mutation|April 23, 2014
TCIRG1-associated congenital neutropeniaVahagn Makaryan, Elisabeth A Rosenthal, Audrey Anna Bolyard, et al.
BMC Medical Genetics|February 17, 2016
Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIPKhadim Shah, Raja Hussain Ali, Muhammad Ansar, et al.
Circulation|March 12, 2008
Variation in the 3-hydroxyl-3-methylglutaryl coenzyme a reductase gene is associated with racial differences in low-density lipoprotein cholesterol response to simvastatin treatmentRonald M Krauss, Lara M Mangravite, Joshua D Smith, et al.
American Journal of Human Genetics|March 19, 2013
WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfectaShawna M Pyott, Thao T Tran, Dru F Leistritz, et al.
Genetic Epidemiology|May 28, 2016
Association Between Absolute Neutrophil Count and Variation at TCIRG1: The NHLBI Exome Sequencing ProjectElisabeth A Rosenthal, Vahagn Makaryan, Amber A Burt, et al.
American Journal of Human Genetics|June 18, 2013
Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89Regie Lyn P Santos-Cortez, Kwanghyuk Lee, Zahid Azeem, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|March 24, 2017
Sequencing of sporadic Attention-Deficit Hyperactivity Disorder (ADHD) identifies novel and potentially pathogenic de novo variants and excludes overlap with genes associated with autism spectrum disorderDaniel Seung Kim, Amber A Burt, Jane E Ranchalis, et al.
Oral Oncology|March 26, 2026
In-office secondary tracheoesophageal puncture with immediate voicing in post-laryngectomy patientsAbdullah A Adil, Joshua D Smith, Mohamad Almasri, et al.
BMC Anesthesiology|July 28, 2023
Use of neuromuscular blockade for neck dissection and association with iatrogenic nerve injuryJoshua D Smith, Graciela Mentz, Aleda M Leis, et al.
Pageof 20

Showing results (101-110 of 194) with videos related to

Sort By:
Pageof 20
European Journal of Human Genetics : EJHG|December 24, 2015
Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disabilityMuhammad Ansar, Abid Jan, Regie Lyn P Santos-Cortez, et al.
Human Mutation|April 23, 2014
TCIRG1-associated congenital neutropeniaVahagn Makaryan, Elisabeth A Rosenthal, Audrey Anna Bolyard, et al.
BMC Medical Genetics|February 17, 2016
Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIPKhadim Shah, Raja Hussain Ali, Muhammad Ansar, et al.
Circulation|March 12, 2008
Variation in the 3-hydroxyl-3-methylglutaryl coenzyme a reductase gene is associated with racial differences in low-density lipoprotein cholesterol response to simvastatin treatmentRonald M Krauss, Lara M Mangravite, Joshua D Smith, et al.
American Journal of Human Genetics|March 19, 2013
WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfectaShawna M Pyott, Thao T Tran, Dru F Leistritz, et al.
Genetic Epidemiology|May 28, 2016
Association Between Absolute Neutrophil Count and Variation at TCIRG1: The NHLBI Exome Sequencing ProjectElisabeth A Rosenthal, Vahagn Makaryan, Amber A Burt, et al.
American Journal of Human Genetics|June 18, 2013
Mutations in KARS, encoding lysyl-tRNA synthetase, cause autosomal-recessive nonsyndromic hearing impairment DFNB89Regie Lyn P Santos-Cortez, Kwanghyuk Lee, Zahid Azeem, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|March 24, 2017
Sequencing of sporadic Attention-Deficit Hyperactivity Disorder (ADHD) identifies novel and potentially pathogenic de novo variants and excludes overlap with genes associated with autism spectrum disorderDaniel Seung Kim, Amber A Burt, Jane E Ranchalis, et al.
Oral Oncology|March 26, 2026
In-office secondary tracheoesophageal puncture with immediate voicing in post-laryngectomy patientsAbdullah A Adil, Joshua D Smith, Mohamad Almasri, et al.
BMC Anesthesiology|July 28, 2023
Use of neuromuscular blockade for neck dissection and association with iatrogenic nerve injuryJoshua D Smith, Graciela Mentz, Aleda M Leis, et al.
Pageof 20