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Emma L Wakeling

Showing results (11-20 of 33) with videos related to

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Clinical Dysmorphology|March 15, 2006
Mild case of Curry-Jones syndromeEllen R A Thomas, Emma L Wakeling, Frances R Goodman, et al.
European Journal of Human Genetics : EJHG|June 13, 2018
A three-generation family with metaphyseal dysplasia, maxillary hypoplasia and brachydactyly (MDMHB) due to intragenic RUNX2 duplicationAmina Al-Yassin, Alistair D Calder, Mike Harrison, et al.
The Journal of Clinical Endocrinology and Metabolism|February 8, 2024
Body Composition and Metabolism in Adults With Molecularly Confirmed Silver-Russell SyndromeOluwakemi Lokulo-Sodipe, Hazel M Inskip, Christopher D Byrne, et al.
Journal of Human Genetics|March 2, 2023
A novel ELP1 mutation impairs the function of the Elongator complex and causes a severe neurodevelopmental phenotypeMarija Kojic, Nour E H Abbassi, Ting-Yu Lin, et al.
Journal of Medical Genetics|October 6, 2018
PEHO syndrome: the endpoint of different genetic epilepsiesManali Chitre, Michael S Nahorski, Kaitlin Stouffer, et al.
Archives of Disease in Childhood|June 30, 2018
Lived experience of Silver-Russell syndrome: implications for management during childhood and into adulthoodLisa Marie Ballard, Elizabeth Jenkinson, Christopher D Byrne, et al.
Archives of Disease in Childhood|March 20, 2021
Experiences of adolescents living with Silver-Russell syndromeLisa Marie Ballard, Elizabeth Jenkinson, Christopher D Byrne, et al.
Journal of Medical Genetics|February 15, 2020
Phenotype of genetically confirmed Silver-Russell syndrome beyond childhoodOluwakemi Lokulo-Sodipe, Lisa Ballard, Jenny Child, et al.
Clinical Endocrinology|March 9, 2022
Height and body mass index in molecularly confirmed Silver-Russell syndrome and the long-term effects of growth hormone treatmentOluwakemi Lokulo-Sodipe, Eloïse Giabicani, Ana P M Canton, et al.
American Journal of Human Genetics|December 7, 2010
Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signalingYun Li, Kathrin Laue, Samia Temtamy, et al.
Pageof 4

Showing results (11-20 of 33) with videos related to

Sort By:
Pageof 4
Clinical Dysmorphology|March 15, 2006
Mild case of Curry-Jones syndromeEllen R A Thomas, Emma L Wakeling, Frances R Goodman, et al.
European Journal of Human Genetics : EJHG|June 13, 2018
A three-generation family with metaphyseal dysplasia, maxillary hypoplasia and brachydactyly (MDMHB) due to intragenic RUNX2 duplicationAmina Al-Yassin, Alistair D Calder, Mike Harrison, et al.
The Journal of Clinical Endocrinology and Metabolism|February 8, 2024
Body Composition and Metabolism in Adults With Molecularly Confirmed Silver-Russell SyndromeOluwakemi Lokulo-Sodipe, Hazel M Inskip, Christopher D Byrne, et al.
Journal of Human Genetics|March 2, 2023
A novel ELP1 mutation impairs the function of the Elongator complex and causes a severe neurodevelopmental phenotypeMarija Kojic, Nour E H Abbassi, Ting-Yu Lin, et al.
Journal of Medical Genetics|October 6, 2018
PEHO syndrome: the endpoint of different genetic epilepsiesManali Chitre, Michael S Nahorski, Kaitlin Stouffer, et al.
Archives of Disease in Childhood|June 30, 2018
Lived experience of Silver-Russell syndrome: implications for management during childhood and into adulthoodLisa Marie Ballard, Elizabeth Jenkinson, Christopher D Byrne, et al.
Archives of Disease in Childhood|March 20, 2021
Experiences of adolescents living with Silver-Russell syndromeLisa Marie Ballard, Elizabeth Jenkinson, Christopher D Byrne, et al.
Journal of Medical Genetics|February 15, 2020
Phenotype of genetically confirmed Silver-Russell syndrome beyond childhoodOluwakemi Lokulo-Sodipe, Lisa Ballard, Jenny Child, et al.
Clinical Endocrinology|March 9, 2022
Height and body mass index in molecularly confirmed Silver-Russell syndrome and the long-term effects of growth hormone treatmentOluwakemi Lokulo-Sodipe, Eloïse Giabicani, Ana P M Canton, et al.
American Journal of Human Genetics|December 7, 2010
Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signalingYun Li, Kathrin Laue, Samia Temtamy, et al.
Pageof 4