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A Hurst

Showing results (461-470 of 476) with videos related to

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The Journal of Clinical Investigation|April 18, 2017
Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiencyJulien Cottineau, Molly C Kottemann, Francis P Lach, et al.
Nature Communications|February 15, 2023
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutationMarie Bernkopf, Ummi B Abdullah, Stephen J Bush, et al.
American Journal of Human Genetics|January 20, 2007
Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremorPatrick S Tarpey, F Lucy Raymond, Sarah O'Meara, et al.
American Journal of Human Genetics|April 15, 2014
Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5Margaret J McMillin, Anita E Beck, Jessica X Chong, et al.
Nucleic Acids Research|November 13, 2013
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype dataSebastian Köhler, Sandra C Doelken, Christopher J Mungall, et al.
Journal of Medical Genetics|July 17, 2008
Clinical and molecular delineation of the 17q21.31 microdeletion syndromeD A Koolen, A J Sharp, J A Hurst, et al.
JAMA Dermatology|May 25, 2022
Nonmelanoma Skin Cancer in Patients Older Than Age 85 Years Presenting for Mohs Surgery: A Prospective, Multicenter Cohort StudyAmanda Maisel-Campbell, Katherine A Lin, Sarah A Ibrahim, et al.
Journal of the American Academy of Dermatology|January 31, 2024
Outcomes of cutaneous surgery for nonmelanoma skin cancer in patients with different Fitzpatrick skin types: A nationwide, multicenter, prospective studyUmer Nadir, Michael D Yi, Eric Koza, et al.
Physical Review Letters|May 21, 2005
"Safe" Coulomb excitation of 30MgO Niedermaier, H Scheit, V Bildstein, et al.
Journal of the American Academy of Dermatology|September 22, 2024
How dermatologic surgeons decide to proceed with surgery for nonmelanoma skin cancer when site identification is initially uncertain: A nationwide, multicenter, prospective studyAreeba Ahmed, Amanda Maisel-Campbell, Victoria J Shi, et al.
Pageof 48

Showing results (461-470 of 476) with videos related to

Sort By:
Pageof 48
The Journal of Clinical Investigation|April 18, 2017
Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiencyJulien Cottineau, Molly C Kottemann, Francis P Lach, et al.
Nature Communications|February 15, 2023
Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutationMarie Bernkopf, Ummi B Abdullah, Stephen J Bush, et al.
American Journal of Human Genetics|January 20, 2007
Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremorPatrick S Tarpey, F Lucy Raymond, Sarah O'Meara, et al.
American Journal of Human Genetics|April 15, 2014
Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5Margaret J McMillin, Anita E Beck, Jessica X Chong, et al.
Nucleic Acids Research|November 13, 2013
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype dataSebastian Köhler, Sandra C Doelken, Christopher J Mungall, et al.
Journal of Medical Genetics|July 17, 2008
Clinical and molecular delineation of the 17q21.31 microdeletion syndromeD A Koolen, A J Sharp, J A Hurst, et al.
JAMA Dermatology|May 25, 2022
Nonmelanoma Skin Cancer in Patients Older Than Age 85 Years Presenting for Mohs Surgery: A Prospective, Multicenter Cohort StudyAmanda Maisel-Campbell, Katherine A Lin, Sarah A Ibrahim, et al.
Journal of the American Academy of Dermatology|January 31, 2024
Outcomes of cutaneous surgery for nonmelanoma skin cancer in patients with different Fitzpatrick skin types: A nationwide, multicenter, prospective studyUmer Nadir, Michael D Yi, Eric Koza, et al.
Physical Review Letters|May 21, 2005
"Safe" Coulomb excitation of 30MgO Niedermaier, H Scheit, V Bildstein, et al.
Journal of the American Academy of Dermatology|September 22, 2024
How dermatologic surgeons decide to proceed with surgery for nonmelanoma skin cancer when site identification is initially uncertain: A nationwide, multicenter, prospective studyAreeba Ahmed, Amanda Maisel-Campbell, Victoria J Shi, et al.
Pageof 48