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American Journal of Medical Genetics. Part A
|
March 2, 2023
SOX5: Lamb-Shaffer syndrome-A case series further expanding the phenotypic spectrum
Katharine Edgerley, Lisa Bryson, Lucy Hanington, et al.
CABI Agriculture and Bioscience
|
May 27, 2024
The UK Crop Microbiome Cryobank: a utility and model for supporting Phytobiomes research
Matthew J Ryan, Tim H Mauchline, Jacob G Malone, et al.
Science (New York, N.Y.)
|
November 19, 2005
GTF2IRD1 in craniofacial development of humans and mice
May Tassabehji, Peter Hammond, Annette Karmiloff-Smith, et al.
European Journal of Human Genetics : EJHG
|
July 5, 2023
Germline pathogenic variants in HNRNPU are associated with alterations in blood methylome
Sunwoo Lee, Eguzkine Ochoa, Magdalena Badura-Stronka, et al.
American Journal of Medical Genetics. Part A
|
August 14, 2012
A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing loss
Alistair T Pagnamenta, Jennie E Murray, Grace Yoon, et al.
Human Mutation
|
May 16, 2021
Dissection of contiguous gene effects for deletions around ERF on chromosome 19
Eduardo Calpena, Simon J McGowan, Fiona Blanco Kelly, et al.
European Journal of Human Genetics : EJHG
|
October 28, 2025
What is risk in clinical genetics? Designing and piloting tools to evaluate risk in clinical genetics using failure modes and effects analysis
Deborah M Lambert, Helen Stewart, Mari Bandiola, et al.
Journal of Human Genetics
|
December 2, 2011
Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies
Alistair T Pagnamenta, Stefano Lise, Victoria Harrison, et al.
Human Genetics
|
August 18, 2009
Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators
Gaia Gestri, Robert J Osborne, Alexander W Wyatt, et al.
Clinical Dysmorphology
|
June 11, 2008
No mutation in genes of the WNT signaling pathway in patients with Zimmermann-Laband syndrome
Benjamin Abo-Dalo, Melanie Roes, Sonia Canún, et al.
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of 10
Search research articles
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Showing results (41-50 of 93) with videos related to
Sort By:
Page
of 10
American Journal of Medical Genetics. Part A
|
March 2, 2023
SOX5: Lamb-Shaffer syndrome-A case series further expanding the phenotypic spectrum
Katharine Edgerley, Lisa Bryson, Lucy Hanington, et al.
CABI Agriculture and Bioscience
|
May 27, 2024
The UK Crop Microbiome Cryobank: a utility and model for supporting Phytobiomes research
Matthew J Ryan, Tim H Mauchline, Jacob G Malone, et al.
Science (New York, N.Y.)
|
November 19, 2005
GTF2IRD1 in craniofacial development of humans and mice
May Tassabehji, Peter Hammond, Annette Karmiloff-Smith, et al.
European Journal of Human Genetics : EJHG
|
July 5, 2023
Germline pathogenic variants in HNRNPU are associated with alterations in blood methylome
Sunwoo Lee, Eguzkine Ochoa, Magdalena Badura-Stronka, et al.
American Journal of Medical Genetics. Part A
|
August 14, 2012
A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing loss
Alistair T Pagnamenta, Jennie E Murray, Grace Yoon, et al.
Human Mutation
|
May 16, 2021
Dissection of contiguous gene effects for deletions around ERF on chromosome 19
Eduardo Calpena, Simon J McGowan, Fiona Blanco Kelly, et al.
European Journal of Human Genetics : EJHG
|
October 28, 2025
What is risk in clinical genetics? Designing and piloting tools to evaluate risk in clinical genetics using failure modes and effects analysis
Deborah M Lambert, Helen Stewart, Mari Bandiola, et al.
Journal of Human Genetics
|
December 2, 2011
Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies
Alistair T Pagnamenta, Stefano Lise, Victoria Harrison, et al.
Human Genetics
|
August 18, 2009
Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators
Gaia Gestri, Robert J Osborne, Alexander W Wyatt, et al.
Clinical Dysmorphology
|
June 11, 2008
No mutation in genes of the WNT signaling pathway in patients with Zimmermann-Laband syndrome
Benjamin Abo-Dalo, Melanie Roes, Sonia Canún, et al.
Page
of 10