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Refinado por: tipo de recurso: Reports remover
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1
Using low depth sequencing for genotyping and subsequent analyses
Using low depth sequencing for genotyping and subsequent analyses
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Using low depth sequencing for genotyping and subsequent analyses

Dodds, Ken

AgResearch 2024

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2
A case series review of patients with Thrombocytopenia and Absent-Radii syndrome (TARS) and their management during pregnancy
A case series review of patients with Thrombocytopenia and Absent-Radii syndrome (TARS) and their management during pregnancy
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A case series review of patients with Thrombocytopenia and Absent-Radii syndrome (TARS) and their management during pregnancy

Halperin, Daniel ; Pavord, Sue ; Myers, Bethan

Platelets, 2021, Vol.32 (8), p.1124-1125

Taylor & Francis

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3
Simultaneous ALS and SCA2 associated with an intermediate-length ATXN2 CAG-repeat expansion
Simultaneous ALS and SCA2 associated with an intermediate-length ATXN2 CAG-repeat expansion
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Simultaneous ALS and SCA2 associated with an intermediate-length ATXN2 CAG-repeat expansion

Ghahremani Nezhad, Helia ; Franklin, John P. ; Alix, James J. P. ; Moll, Tobias ; Pattrick, Michael ; Cooper-Knock, Johnathan ; Shanmugarajah, Priya ; Beauchamp, Nick J. ; Hadjivissiliou, Marios ; Paling, David ; Mcdermott, Christopher ; Shaw, Pamela J. ; Jenkins, Thomas M.

Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2021, Vol.22 (7-8), p.579-582

Taylor & Francis

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4
Ocular findings in pediatric turner syndrome
Ocular findings in pediatric turner syndrome
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Ocular findings in pediatric turner syndrome

Huang, Jonathan ; Basith, Syeda Sumara Taranum ; Patel, Sheetal ; Goetsch Weisman, Allison ; Brickman, Wendy ; Mets, Marilyn B. ; Mets-Halgrimson, Rebecca

Ophthalmic Genetics, 2022, Vol.43 (4), p.450-453

Taylor & Francis

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5
Concurrent sodium channelopathies and amyotrophic lateral sclerosis supports shared pathogenesis
Concurrent sodium channelopathies and amyotrophic lateral sclerosis supports shared pathogenesis
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Concurrent sodium channelopathies and amyotrophic lateral sclerosis supports shared pathogenesis

Franklin, John P. ; Cooper-Knock, Johnathan ; Baheerathan, Aravindhan ; Moll, Tobias ; Männikkö, Roope ; Heverin, Mark ; Hardiman, Orla ; Shaw, Pamela J. ; Hanna, Michael G.

Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2020, Vol.21 (7-8), p.627-630

Taylor & Francis

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6
Center for Scientific Review; Notice of Closed Meetings
Center for Scientific Review; Notice of Closed Meetings
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Center for Scientific Review; Notice of Closed Meetings

The Federal Register / FIND, 2022, Vol.87 (11), p.2628

Washington: Federal Information & News Dispatch, LLC

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7
Proximal interphalangeal-level fracture in patient with symphalangism
Proximal interphalangeal-level fracture in patient with symphalangism
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Proximal interphalangeal-level fracture in patient with symphalangism

Pan, Tommy ; Hoang, Don ; Payatakes, Alexander

Case Reports in Plastic Surgery and Hand Surgery, 2022, Vol.9 (1), p.214-219

Taylor & Francis

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8
Bilateral anterior segment dysgenesis and peripheral avascular retina with tractional retinal detachment in an infant with multiple congenital anomalies-hypotony-seizures syndrome 3
Bilateral anterior segment dysgenesis and peripheral avascular retina with tractional retinal detachment in an infant with multiple congenital anomalies-hypotony-seizures syndrome 3
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Bilateral anterior segment dysgenesis and peripheral avascular retina with tractional retinal detachment in an infant with multiple congenital anomalies-hypotony-seizures syndrome 3

Wu, Frances ; Goldenberg, Paula C. ; Mukai, Shizuo

Ophthalmic Genetics, 2021, Vol.42 (3), p.334-337

Taylor & Francis

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9
Functional imaging of mitochondria in genetically confirmed retinal dystrophies using flavoprotein fluorescence
Functional imaging of mitochondria in genetically confirmed retinal dystrophies using flavoprotein fluorescence
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Functional imaging of mitochondria in genetically confirmed retinal dystrophies using flavoprotein fluorescence

Russell, Matthew W. ; Muste, Justin C. ; Seth, Kanika ; Kumar, Madhukar ; Rich, Collin A. ; Singh, Rishi P. ; Traboulsi, Elias I.

Ophthalmic Genetics: Special Issue: Festschrift: Dedicated to the life and work of A. Linn Murphree, MD, 2022, Vol.43 (6), p.834-840

Taylor & Francis

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10
ALS due to a novel TBK1 mutation in Brazil
ALS due to a novel TBK1 mutation in Brazil
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ALS due to a novel TBK1 mutation in Brazil

Gondim, Francisco de Assis Aquino ; Fernandes, José Marcelino Aragão ; Marques Júnior, Wilson

Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2022, Vol.23 (7-8), p.620-622

Taylor & Francis

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