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Susan M White

Showing results (91-100 of 160) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 16, 2020
Correction: DOORS syndrome and a recurrent truncating ATP6V1B2 variantEliane Beauregard-Lacroix, Guillermo Pacheco-Cuellar, Norbert F Ajeawung, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 18, 2022
Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signalingWilliam Dufour, Salem Alawbathani, Anne-Sophie Jourdain, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 11, 2020
A cost-effectiveness analysis of genomic sequencing in a prospective versus historical cohort of complex pediatric patientsAlison Yeung, Natalie B Tan, Tiong Y Tan, et al.
Iscience|August 12, 2025
PIEZO1 mechanical insensitivity in generalized lymphatic dysplasia with the potential for pharmacological rescueMelanie J Ludlow, Oleksandr V Povstyan, Deborah M Linley, et al.
Nature Genetics|November 5, 2002
Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndromeKaren M Lower, Gillian Turner, Bronwyn A Kerr, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 3, 2020
DOORS syndrome and a recurrent truncating ATP6V1B2 variantEliane Beauregard-Lacroix, Guillermo Pacheco-Cuellar, Norbert F Ajeawung, et al.
Human Mutation|February 12, 2019
Cerebral hypomyelination associated with biallelic variants of FIG4Guy M Lenk, Ian R Berry, Chloe A Stutterd, et al.
Medrxiv : the Preprint Server for Health Sciences|May 25, 2026
A genome-wide deletion map in 125,730 individuals for novel rare disease gene and variant discoveryAnthony McGuigan, Alistair T Pagnamenta, Laura E Covill, et al.
American Journal of Human Genetics|March 31, 2026
Bi-allelic variants in NDUFA5 cause a mitochondriopathy with complex I deficiencyNatalie B Tan, Matthias Gautschi, Michael Raum, et al.
NPJ Genomic Medicine|February 27, 2025
International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric diseaseKatherine B Howell, Susan M White, Amy McTague, et al.
Pageof 16

Showing results (91-100 of 160) with videos related to

Sort By:
Pageof 16
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 16, 2020
Correction: DOORS syndrome and a recurrent truncating ATP6V1B2 variantEliane Beauregard-Lacroix, Guillermo Pacheco-Cuellar, Norbert F Ajeawung, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 18, 2022
Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signalingWilliam Dufour, Salem Alawbathani, Anne-Sophie Jourdain, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 11, 2020
A cost-effectiveness analysis of genomic sequencing in a prospective versus historical cohort of complex pediatric patientsAlison Yeung, Natalie B Tan, Tiong Y Tan, et al.
Iscience|August 12, 2025
PIEZO1 mechanical insensitivity in generalized lymphatic dysplasia with the potential for pharmacological rescueMelanie J Ludlow, Oleksandr V Povstyan, Deborah M Linley, et al.
Nature Genetics|November 5, 2002
Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndromeKaren M Lower, Gillian Turner, Bronwyn A Kerr, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 3, 2020
DOORS syndrome and a recurrent truncating ATP6V1B2 variantEliane Beauregard-Lacroix, Guillermo Pacheco-Cuellar, Norbert F Ajeawung, et al.
Human Mutation|February 12, 2019
Cerebral hypomyelination associated with biallelic variants of FIG4Guy M Lenk, Ian R Berry, Chloe A Stutterd, et al.
Medrxiv : the Preprint Server for Health Sciences|May 25, 2026
A genome-wide deletion map in 125,730 individuals for novel rare disease gene and variant discoveryAnthony McGuigan, Alistair T Pagnamenta, Laura E Covill, et al.
American Journal of Human Genetics|March 31, 2026
Bi-allelic variants in NDUFA5 cause a mitochondriopathy with complex I deficiencyNatalie B Tan, Matthias Gautschi, Michael Raum, et al.
NPJ Genomic Medicine|February 27, 2025
International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric diseaseKatherine B Howell, Susan M White, Amy McTague, et al.
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