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Frontiers in Endocrinology
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September 5, 2022
Emerging phenotypes linked to variants in <i>SAMD9</i> and MIRAGE syndrome
Jenifer P Suntharalingham, Miho Ishida, Ignacio Del Valle, et al.
The Journal of Clinical Endocrinology and Metabolism
|
February 25, 2025
A tiered approach to exome sequencing analysis in early-onset Primary Ovarian Insufficiency
Sinéad M McGlacken-Byrne, Jenifer P Suntharalingham, Miho Ishida, et al.
Frontiers in Endocrinology
|
October 6, 2023
Analysis of genetic variability in Turner syndrome linked to long-term clinical features
Jenifer P Suntharalingham, Miho Ishida, Antoinette Cameron-Pimblett, et al.
American Journal of Human Genetics
|
March 27, 2012
Maternal inheritance of a promoter variant in the imprinted PHLDA2 gene significantly increases birth weight
Miho Ishida, David Monk, Andrew J Duncan, et al.
Nucleic Acids Research
|
June 17, 2022
Tissue- and ethnicity-independent hypervariable DNA methylation states show evidence of establishment in the early human embryo
Maria Derakhshan, Noah J Kessler, Miho Ishida, et al.
Journal of Medical Genetics
|
February 15, 2020
Phenotype of genetically confirmed Silver-Russell syndrome beyond childhood
Oluwakemi Lokulo-Sodipe, Lisa Ballard, Jenny Child, et al.
Human Mutation
|
March 4, 2017
Maternal mutations of FOXF1 cause alveolar capillary dysplasia despite not being imprinted
Miguel Alsina Casanova, Ana Monteagudo-Sánchez, Luciana Rodiguez Guerineau, et al.
Plos One
|
January 24, 2014
Paternally expressed, imprinted insulin-like growth factor-2 in chorionic villi correlates significantly with birth weight
Charalambos Demetriou, Sayeda Abu-Amero, Anna C Thomas, et al.
Nature Communications
|
September 28, 2024
QSOX2 Deficiency-induced short stature, gastrointestinal dysmotility and immune dysfunction
Avinaash V Maharaj, Miho Ishida, Anna Rybak, et al.
The Journal of Investigative Dermatology
|
February 9, 2013
Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS
Veronica A Kinsler, Anna C Thomas, Miho Ishida, et al.
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of 3
Search research articles
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Showing results (11-20 of 30) with videos related to
Sort By:
Page
of 3
Frontiers in Endocrinology
|
September 5, 2022
Emerging phenotypes linked to variants in <i>SAMD9</i> and MIRAGE syndrome
Jenifer P Suntharalingham, Miho Ishida, Ignacio Del Valle, et al.
The Journal of Clinical Endocrinology and Metabolism
|
February 25, 2025
A tiered approach to exome sequencing analysis in early-onset Primary Ovarian Insufficiency
Sinéad M McGlacken-Byrne, Jenifer P Suntharalingham, Miho Ishida, et al.
Frontiers in Endocrinology
|
October 6, 2023
Analysis of genetic variability in Turner syndrome linked to long-term clinical features
Jenifer P Suntharalingham, Miho Ishida, Antoinette Cameron-Pimblett, et al.
American Journal of Human Genetics
|
March 27, 2012
Maternal inheritance of a promoter variant in the imprinted PHLDA2 gene significantly increases birth weight
Miho Ishida, David Monk, Andrew J Duncan, et al.
Nucleic Acids Research
|
June 17, 2022
Tissue- and ethnicity-independent hypervariable DNA methylation states show evidence of establishment in the early human embryo
Maria Derakhshan, Noah J Kessler, Miho Ishida, et al.
Journal of Medical Genetics
|
February 15, 2020
Phenotype of genetically confirmed Silver-Russell syndrome beyond childhood
Oluwakemi Lokulo-Sodipe, Lisa Ballard, Jenny Child, et al.
Human Mutation
|
March 4, 2017
Maternal mutations of FOXF1 cause alveolar capillary dysplasia despite not being imprinted
Miguel Alsina Casanova, Ana Monteagudo-Sánchez, Luciana Rodiguez Guerineau, et al.
Plos One
|
January 24, 2014
Paternally expressed, imprinted insulin-like growth factor-2 in chorionic villi correlates significantly with birth weight
Charalambos Demetriou, Sayeda Abu-Amero, Anna C Thomas, et al.
Nature Communications
|
September 28, 2024
QSOX2 Deficiency-induced short stature, gastrointestinal dysmotility and immune dysfunction
Avinaash V Maharaj, Miho Ishida, Anna Rybak, et al.
The Journal of Investigative Dermatology
|
February 9, 2013
Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS
Veronica A Kinsler, Anna C Thomas, Miho Ishida, et al.
Page
of 3