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Miho Ishida

Showing results (21-30 of 30) with videos related to

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European Journal of Endocrinology|October 15, 2020
Rare CNVs provide novel insights into the molecular basis of GH and IGF-1 insensitivityEmily Cottrell, Claudia P Cabrera, Miho Ishida, et al.
Nature Genetics|November 19, 2013
Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndromeSérgio B Sousa, Dagan Jenkins, Estelle Chanudet, et al.
Communications Biology|February 16, 2025
The transcriptomic landscape of monosomy X (45,X) during early human fetal and placental developmentJenifer P Suntharalingham, Ignacio Del Valle, Federica Buonocore, et al.
Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences|January 21, 2015
The role and interaction of imprinted genes in human fetal growthGudrun E Moore, Miho Ishida, Charalambos Demetriou, et al.
Plos Genetics|January 13, 2017
Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and MiceMartina M A Muggenthaler, Biswajit Chowdhury, S Naimul Hasan, et al.
Scientific Reports|August 15, 2020
Diverse species-specific phenotypic consequences of loss of function sorting nexin 14 mutationsDale Bryant, Marian Seda, Emma Peskett, et al.
JCI Insight|February 9, 2022
Pathogenic variants in the human m6A reader YTHDC2 are associated with primary ovarian insufficiencySinéad M McGlacken-Byrne, Ignacio Del Valle, Polona Le Quesne Stabej, et al.
American Journal of Human Genetics|March 29, 2016
Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft PalateElisabeth Mangold, Anne C Böhmer, Nina Ishorst, et al.
The Journal of Clinical Endocrinology and Metabolism|January 18, 2018
Genetic Analyses in Small-for-Gestational-Age NewbornsSusanne E Stalman, Nita Solanky, Miho Ishida, et al.
American Journal of Human Genetics|December 3, 2014
Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndromeAnna C Thomas, Hywel Williams, Núria Setó-Salvia, et al.
Pageof 3

Showing results (21-30 of 30) with videos related to

Sort By:
Pageof 3
You have reached the last page of results.This site can display upto 30 results.
European Journal of Endocrinology|October 15, 2020
Rare CNVs provide novel insights into the molecular basis of GH and IGF-1 insensitivityEmily Cottrell, Claudia P Cabrera, Miho Ishida, et al.
Nature Genetics|November 19, 2013
Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndromeSérgio B Sousa, Dagan Jenkins, Estelle Chanudet, et al.
Communications Biology|February 16, 2025
The transcriptomic landscape of monosomy X (45,X) during early human fetal and placental developmentJenifer P Suntharalingham, Ignacio Del Valle, Federica Buonocore, et al.
Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences|January 21, 2015
The role and interaction of imprinted genes in human fetal growthGudrun E Moore, Miho Ishida, Charalambos Demetriou, et al.
Plos Genetics|January 13, 2017
Mutations in HYAL2, Encoding Hyaluronidase 2, Cause a Syndrome of Orofacial Clefting and Cor Triatriatum Sinister in Humans and MiceMartina M A Muggenthaler, Biswajit Chowdhury, S Naimul Hasan, et al.
Scientific Reports|August 15, 2020
Diverse species-specific phenotypic consequences of loss of function sorting nexin 14 mutationsDale Bryant, Marian Seda, Emma Peskett, et al.
JCI Insight|February 9, 2022
Pathogenic variants in the human m6A reader YTHDC2 are associated with primary ovarian insufficiencySinéad M McGlacken-Byrne, Ignacio Del Valle, Polona Le Quesne Stabej, et al.
American Journal of Human Genetics|March 29, 2016
Sequencing the GRHL3 Coding Region Reveals Rare Truncating Mutations and a Common Susceptibility Variant for Nonsyndromic Cleft PalateElisabeth Mangold, Anne C Böhmer, Nina Ishorst, et al.
The Journal of Clinical Endocrinology and Metabolism|January 18, 2018
Genetic Analyses in Small-for-Gestational-Age NewbornsSusanne E Stalman, Nita Solanky, Miho Ishida, et al.
American Journal of Human Genetics|December 3, 2014
Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndromeAnna C Thomas, Hywel Williams, Núria Setó-Salvia, et al.
Pageof 3