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Stephen P Robertson

Showing results (31-40 of 146) with videos related to

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European Journal of Human Genetics : EJHG|May 10, 2021
Deletion of the last two exons of FGF10 in a family with LADD syndrome and pulmonary acinar hypoplasiaEmma M Wade, Padmini Parthasarathy, Jingyi Mi, et al.
Journal of Medical Genetics|August 4, 2010
WTX mutations can occur both early and late in the pathogenesis of Wilms tumourRyuji Fukuzawa, Sarah K Holman, C W Chow, et al.
Genes|April 30, 2021
Intragenic Deletions in <i>FLNB</i> Are Part of the Mutational Spectrum Causing Spondylocarpotarsal Synostosis SyndromeKaya Fukushima, Padmini Parthasarathy, Emma M Wade, et al.
Journal of the Royal Society of New Zealand|October 23, 2024
The current and future state of child health and wellbeing in Aotearoa New Zealand: Part 2Tahirah Materoa Moton, Paula Toko King, Stuart R Dalziel, et al.
Journal of the Royal Society of New Zealand|October 23, 2024
The current and future state of child health and wellbeing in Aotearoa New Zealand: part 1Tahirah Materoa Moton, Paula Toko King, Stuart R Dalziel, et al.
American Journal of Medical Genetics. Part A|December 29, 2020
Frontometaphyseal dysplasia 1 in a patient from Sri LankaRuwangi Dissanayake, Manouri P Senanayake, Jerard Fernando, et al.
Pediatrics|July 5, 2007
Maternal psychological reaction to newborn genetic screening for type 1 diabetesNicola J Kerruish, Priscilla L Campbell-Stokes, Andrew Gray, et al.
Clinical Dysmorphology|December 13, 2006
Phenotypic overlap in Melnick-Needles, serpentine fibula-polycystic kidney and Hajdu-Cheney syndromes: a clinical and molecular study in three patientsLilian M J Albano, Débora R Bertola, Mário F Barba, et al.
American Journal of Medical Genetics. Part A|July 2, 2003
Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasiaValentine J Hyland, Stephen P Robertson, Simon Flanagan, et al.
European Journal of Human Genetics : EJHG|March 16, 2006
Postzygotic mutation and germline mosaicism in the otopalatodigital syndrome spectrum disordersStephen P Robertson, Sarah Thompson, Timothy Morgan, et al.
Pageof 15

Showing results (31-40 of 146) with videos related to

Sort By:
Pageof 15
European Journal of Human Genetics : EJHG|May 10, 2021
Deletion of the last two exons of FGF10 in a family with LADD syndrome and pulmonary acinar hypoplasiaEmma M Wade, Padmini Parthasarathy, Jingyi Mi, et al.
Journal of Medical Genetics|August 4, 2010
WTX mutations can occur both early and late in the pathogenesis of Wilms tumourRyuji Fukuzawa, Sarah K Holman, C W Chow, et al.
Genes|April 30, 2021
Intragenic Deletions in <i>FLNB</i> Are Part of the Mutational Spectrum Causing Spondylocarpotarsal Synostosis SyndromeKaya Fukushima, Padmini Parthasarathy, Emma M Wade, et al.
Journal of the Royal Society of New Zealand|October 23, 2024
The current and future state of child health and wellbeing in Aotearoa New Zealand: Part 2Tahirah Materoa Moton, Paula Toko King, Stuart R Dalziel, et al.
Journal of the Royal Society of New Zealand|October 23, 2024
The current and future state of child health and wellbeing in Aotearoa New Zealand: part 1Tahirah Materoa Moton, Paula Toko King, Stuart R Dalziel, et al.
American Journal of Medical Genetics. Part A|December 29, 2020
Frontometaphyseal dysplasia 1 in a patient from Sri LankaRuwangi Dissanayake, Manouri P Senanayake, Jerard Fernando, et al.
Pediatrics|July 5, 2007
Maternal psychological reaction to newborn genetic screening for type 1 diabetesNicola J Kerruish, Priscilla L Campbell-Stokes, Andrew Gray, et al.
Clinical Dysmorphology|December 13, 2006
Phenotypic overlap in Melnick-Needles, serpentine fibula-polycystic kidney and Hajdu-Cheney syndromes: a clinical and molecular study in three patientsLilian M J Albano, Débora R Bertola, Mário F Barba, et al.
American Journal of Medical Genetics. Part A|July 2, 2003
Somatic and germline mosaicism for a R248C missense mutation in FGFR3, resulting in a skeletal dysplasia distinct from thanatophoric dysplasiaValentine J Hyland, Stephen P Robertson, Simon Flanagan, et al.
European Journal of Human Genetics : EJHG|March 16, 2006
Postzygotic mutation and germline mosaicism in the otopalatodigital syndrome spectrum disordersStephen P Robertson, Sarah Thompson, Timothy Morgan, et al.
Pageof 15