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Joseph J Shen

Showing results (1-10 of 22) with videos related to

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Clinical Dysmorphology|January 29, 2015
Two cases of Temple-Baraitser syndrome: natural history and further delineation of the clinical and radiologic phenotypesJoseph J Shen
Journal of Genetic Counseling|February 5, 2018
Identifying and Addressing Genetic Counseling Challenges among Indigenous People of Oaxaca-One Center's Experience with Two Immigrant Farmworker Families in the Central Valley of CaliforniaJoseph J Shen, Jason Carmichael, Leoncio Vásquez Santos
Pediatrics in Review|March 31, 2024
Short Stature and Brachydactyly in an 8-year-old Girl with Congenital HypothyroidismQuinn S Fujii, Joseph J Shen, Lindsey A Loomba
American Journal of Medical Genetics. Part A|October 24, 2015
BRAT1-related disease--identification of a patient without early lethalitySheraden A Mundy, Bryan L Krock, Rong Mao, et al.
Journal of Perinatology : Official Journal of the California Perinatal Association|April 22, 2005
Terminal deletion of chromosome 15q26.1: case report and brief literature reviewKushal Y Bhakta, Sarah J Marlin, Joseph J Shen, et al.
Pediatric Blood & Cancer|September 25, 2004
Low factor XII level in an individual with Sotos syndromeJoseph J Shen, N Kurotaki, A Patel, et al.
BMC Medical Genomics|July 16, 2021
CNKSR2-related neurodevelopmental and epilepsy disorder: a cohort of 13 new families and literature review indicating a predominance of loss of function pathogenic variantsLeigh Ann Higa, Jennifer Wardley, Christopher Wardley, et al.
Molecular Endocrinology (Baltimore, Md.)|November 15, 2008
Deficiency of growth differentiation factor 3 protects against diet-induced obesity by selectively acting on white adiposeJoseph J Shen, Lihua Huang, Liunan Li, et al.
Journal of Pediatric Gastroenterology and Nutrition|August 3, 2020
A Case of Lysosomal Acid Lipase Deficiency Confirmed by Response to Sebelipase Alfa TherapyJoseph J Shen, Jessica L Davis, Xinying Hong, et al.
AJP Reports|March 19, 2026
Transient Neonatal Cyanosis Exacerbated by Inhaled Nitric OxideKaquanta Barlow, Charles J Sadle, Vidhi Jhaveri, et al.
Pageof 3

Showing results (1-10 of 22) with videos related to

Sort By:
Pageof 3
Clinical Dysmorphology|January 29, 2015
Two cases of Temple-Baraitser syndrome: natural history and further delineation of the clinical and radiologic phenotypesJoseph J Shen
Journal of Genetic Counseling|February 5, 2018
Identifying and Addressing Genetic Counseling Challenges among Indigenous People of Oaxaca-One Center's Experience with Two Immigrant Farmworker Families in the Central Valley of CaliforniaJoseph J Shen, Jason Carmichael, Leoncio Vásquez Santos
Pediatrics in Review|March 31, 2024
Short Stature and Brachydactyly in an 8-year-old Girl with Congenital HypothyroidismQuinn S Fujii, Joseph J Shen, Lindsey A Loomba
American Journal of Medical Genetics. Part A|October 24, 2015
BRAT1-related disease--identification of a patient without early lethalitySheraden A Mundy, Bryan L Krock, Rong Mao, et al.
Journal of Perinatology : Official Journal of the California Perinatal Association|April 22, 2005
Terminal deletion of chromosome 15q26.1: case report and brief literature reviewKushal Y Bhakta, Sarah J Marlin, Joseph J Shen, et al.
Pediatric Blood & Cancer|September 25, 2004
Low factor XII level in an individual with Sotos syndromeJoseph J Shen, N Kurotaki, A Patel, et al.
BMC Medical Genomics|July 16, 2021
CNKSR2-related neurodevelopmental and epilepsy disorder: a cohort of 13 new families and literature review indicating a predominance of loss of function pathogenic variantsLeigh Ann Higa, Jennifer Wardley, Christopher Wardley, et al.
Molecular Endocrinology (Baltimore, Md.)|November 15, 2008
Deficiency of growth differentiation factor 3 protects against diet-induced obesity by selectively acting on white adiposeJoseph J Shen, Lihua Huang, Liunan Li, et al.
Journal of Pediatric Gastroenterology and Nutrition|August 3, 2020
A Case of Lysosomal Acid Lipase Deficiency Confirmed by Response to Sebelipase Alfa TherapyJoseph J Shen, Jessica L Davis, Xinying Hong, et al.
AJP Reports|March 19, 2026
Transient Neonatal Cyanosis Exacerbated by Inhaled Nitric OxideKaquanta Barlow, Charles J Sadle, Vidhi Jhaveri, et al.
Pageof 3