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A Bacino

Showing results (41-50 of 173) with videos related to

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American Journal of Medical Genetics. Part A|August 6, 2003
Preimplantation genetic diagnosis for a known cryptic translocation: follow-up clinical report and implication of segregation productsL J McKenzie, P L Cisneros, S Torsky, et al.
Molecular Genetics and Metabolism|May 10, 2015
Aromatic L-amino acid decarboxylase deficiency diagnosed by clinical metabolomic profiling of plasmaPaldeep S Atwal, Taraka R Donti, Aaron L Cardon, et al.
Orphanet Journal of Rare Diseases|October 24, 2019
A placebo-controlled trial of folic acid and betaine in identical twins with Angelman syndromeJulia Han, Terry Jo Bichell, Stephanie Golden, et al.
American Journal of Medical Genetics. Part A|July 14, 2016
Increased bone turnover, osteoporosis, progressive tibial bowing, fractures, and scoliosis in a patient with a final-exon SATB2 frameshift mutationPhilip M Boone, Yiu Man Chan, Jill V Hunter, et al.
International Journal of Obesity (2005)|August 9, 2006
Linkage analysis of circulating levels of adiponectin in Hispanic childrenM E Tejero, G Cai, H H H Göring, et al.
Prenatal Diagnosis|November 1, 1993
Fetal akinesia/hypokinesia sequence: prenatal diagnosis and intra-familial variabilityC A Bacino, L D Platt, A Garber, et al.
American Journal of Medical Genetics. Part A|August 21, 2024
Recurrent carotid paragangliomas in a syndromic patient with a heterozygous missense variant in DNA Methyltransferase 3 AlphaRyan J German, Blake Vuocolo, Liesbeth Vossaert, et al.
European Journal of Medical Genetics|August 25, 2018
Novel deletion of 6p21.31p21.1 associated with laryngeal cleft, developmental delay, dysmorphic features and vascular anomalyNishitha R Pillai, Dana Marafi, Sonia A Monteiro, et al.
American Journal of Medical Genetics. Part A|September 5, 2020
Sudden infant death with dysgenesis of the testes syndrome in a non-Amish infant: A case reportBrady Slater, Kevin Glinton, Hongzheng Dai, et al.
Human Molecular Genetics|March 3, 2016
Missense variants in the middle domain of DNM1L in cases of infantile encephalopathy alter peroxisomes and mitochondria when assayed in DrosophilaYu-Hsin Chao, Laurie A Robak, Fan Xia, et al.
Pageof 18

Showing results (41-50 of 173) with videos related to

Sort By:
Pageof 18
American Journal of Medical Genetics. Part A|August 6, 2003
Preimplantation genetic diagnosis for a known cryptic translocation: follow-up clinical report and implication of segregation productsL J McKenzie, P L Cisneros, S Torsky, et al.
Molecular Genetics and Metabolism|May 10, 2015
Aromatic L-amino acid decarboxylase deficiency diagnosed by clinical metabolomic profiling of plasmaPaldeep S Atwal, Taraka R Donti, Aaron L Cardon, et al.
Orphanet Journal of Rare Diseases|October 24, 2019
A placebo-controlled trial of folic acid and betaine in identical twins with Angelman syndromeJulia Han, Terry Jo Bichell, Stephanie Golden, et al.
American Journal of Medical Genetics. Part A|July 14, 2016
Increased bone turnover, osteoporosis, progressive tibial bowing, fractures, and scoliosis in a patient with a final-exon SATB2 frameshift mutationPhilip M Boone, Yiu Man Chan, Jill V Hunter, et al.
International Journal of Obesity (2005)|August 9, 2006
Linkage analysis of circulating levels of adiponectin in Hispanic childrenM E Tejero, G Cai, H H H Göring, et al.
Prenatal Diagnosis|November 1, 1993
Fetal akinesia/hypokinesia sequence: prenatal diagnosis and intra-familial variabilityC A Bacino, L D Platt, A Garber, et al.
American Journal of Medical Genetics. Part A|August 21, 2024
Recurrent carotid paragangliomas in a syndromic patient with a heterozygous missense variant in DNA Methyltransferase 3 AlphaRyan J German, Blake Vuocolo, Liesbeth Vossaert, et al.
European Journal of Medical Genetics|August 25, 2018
Novel deletion of 6p21.31p21.1 associated with laryngeal cleft, developmental delay, dysmorphic features and vascular anomalyNishitha R Pillai, Dana Marafi, Sonia A Monteiro, et al.
American Journal of Medical Genetics. Part A|September 5, 2020
Sudden infant death with dysgenesis of the testes syndrome in a non-Amish infant: A case reportBrady Slater, Kevin Glinton, Hongzheng Dai, et al.
Human Molecular Genetics|March 3, 2016
Missense variants in the middle domain of DNM1L in cases of infantile encephalopathy alter peroxisomes and mitochondria when assayed in DrosophilaYu-Hsin Chao, Laurie A Robak, Fan Xia, et al.
Pageof 18