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1 . Academic Journal
P062: A case of ornithine transcarbamylase deficiency
저자
by
Suad Siuffi Campo
;
Paul Hillman
;
David Rodriguez-Buritica
.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 100939- (2024)
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5 . Academic Journal
P279: Triple diagnosis of X-linked chondrodysplasia punctata, MECP2-related disorder, and mosaic Jacobs syndrome in a male infant via rapid WGS
저자
by
Kathleen Shields
;
Paul Hillman
;
Laura Farach
.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101175- (2024)
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5 . Academic Journal
P378: Expanding the phenotype of hyper-IgE syndrome: Heterozygous VUS in IL6ST with elevated serum IgE and isolated abscesses
저자
by
Jordan Zeiger
;
Paul Hillman
.
소스
Genetics in Medicine Open, Vol 2, Iss , Pp 101272- (2024)
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4 . Academic Journal
Total Focusing Method (TFM) and Phase Coherence Imaging (PCI) applied to various industrial cases
저자
by
Frederic Reverdy
;
Paul Hillman
;
Guy Maes
.
소스
e-Journal of Nondestructive Testing, Vol 28, Iss 8 (2023)
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5 . Academic Journal
P184: A case of multiple hemangiomas and arteriovenous malformations in a patient with known Greig cephalopolysyndactyly syndrome
저자
by
Kathryn Gunther
;
Paul Hillman
;
Parsa Hodjat
.
소스
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100213- (2023)
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5 . Academic Journal
P192: Heterozygous ACTB pathogenic variant causing Baraitser-Winter syndrome presenting with tracheal ring, intestinal atresia, and neonatal diabetes
저자
by
Jeremy Hill
;
Kathleen Shields
;
David Rodriguez-Buritica
;
Laura Farach
;
Paul Hillman
.
소스
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100221- (2023)
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7 . Academic Journal
P232: Novel de novo intronic KAT6B variant in 9-year-old female adds to the wide phenotypic spectrum of KAT6B disorders
저자
by
Lingying Liu
;
Paul Hillman
.
소스
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100260- (2023)
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4 . Academic Journal
P231: Homozygous ALDH18A1 variant in siblings adds to understanding of early disease progression in autosomal recessive hereditary spastic paraplegia type 9B
저자
by
Lingying Liu
;
Paul Hillman
.
소스
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100259- (2023)
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4 . Academic Journal
Identification of a novel microdeletion causative of Nance‐Horan syndrome
저자
by
Mariana Lopez Martinolich
;
Hope Northrup
;
Pedro Mancias
;
Paul Hillman
;
Kavya Rao
, et al.
소스
Molecular Genetics & Genomic Medicine, Vol 10, Iss 3, Pp n/a-n/a (2022)
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7 . Academic Journal
Identification of novel candidate risk genes for myelomeningocele within the glucose homeostasis/oxidative stress and folate/one‐carbon metabolism networks
저자
by
Paul Hillman
;
Craig Baker
;
Luke Hebert
;
Michael Brown
;
James Hixson
, et al.
소스
Molecular Genetics & Genomic Medicine, Vol 8, Iss 11, Pp n/a-n/a (2020)
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