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Author/Creator Huizing, Marjan

1. Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects. Issue 5 (13th January 2016)

Authors:
Vilboux, Thierry; Malicdan, May Christine V; Chang, Yun Min; Guo, Jennifer; Zerfas, Patricia M; Stephen, Joshi; Cullinane, Andrew R; Bryant, Joy; Fischer, Roxanne; Brooks, Brian P; Zein, Wadih M; Wiggs, Edythe A; Zalewski, Christopher K; Poretti, Andrea; Bryan, Melanie M; Vemulapalli, Meghana; Mu...
Journal:
Journal of medical genetics
Issue:
Volume 53:Issue 5(2016)
Page Start:
318
Record Type:
Journal Article
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2. Delayed diagnosis in a house of correction: Smith–Magenis syndrome due to a de novo nonsense RAI1 variant. Issue 9 (17th June 2016)

Authors:
Yeetong, Patra; Vilboux, Thierry; Ciccone, Carla; Boulier, Kristin; Schnur, Rhonda E.; Gahl, William A.; Huizing, Marjan; Laje, Gonzalo; Smith, Ann C. M.
Journal:
American journal of medical genetics
Issue:
Volume 170:Issue 9(2016)
Page Start:
2383
Record Type:
Journal Article
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3. DNA Variations in Oculocutaneous Albinism: An Updated Mutation List and Current Outstanding Issues in Molecular Diagnostics. Issue 6 (30th April 2013)

Authors:
Simeonov, Dimitre R.; Wang, Xinjing; Wang, Chen; Sergeev, Yuri; Dolinska, Monika; Bower, Matthew; Fischer, Roxanne; Winer, David; Dubrovsky, Genia; Balog, Joan Z.; Huizing, Marjan; Hart, Rachel; Zein, Wadih M.; Gahl, William A.; Brooks, Brian P.; Adams, David R.
Journal:
Human mutation
Issue:
Volume 34:Issue 6(2013:Jun.)
Page Start:
827
Record Type:
Journal Article
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4. Free sialic acid storage disorder: Progress and promise. (11th June 2021)

Authors:
Huizing, Marjan; Hackbarth, Mary E.; Adams, David R.; Wasserstein, Melissa; Patterson, Marc C.; Walkley, Steven U.; Gahl, William A.; Adams, David R.; Dobrenis, Kostantin; Foglio, Jessica; Gahl, William A.; Gasnier, Bruno; Hackbarth, Mary; Huizing, Marjan; Lek, Monkol; Malicdan, May C.V.; Paavola...
Journal:
Neuroscience letters
Issue:
Volume 755(2021)
Page Start:
Record Type:
Journal Article
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7. Hermansky-Pudlak syndrome with a novel genetic variant in HPS1 and subsequent accelerated pulmonary fibrosis: significance for phenocopy diseases. Issue 11 (25th June 2018)

Authors:
McElvaney, Oliver J; Huizing, Marjan; Gahl, William A; O'Donovan, Paul; Horan, Deirdre; Logan, P Mark; Reeves, Emer P; McElvaney, Noel G
Journal:
Thorax
Issue:
Volume 73:Issue 11(2018)
Page Start:
1085
Record Type:
Journal Article
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9. Identification of an Alu element‐mediated deletion in the promoter region of GNE in siblings with GNE myopathy. Issue 4 (14th June 2017)

Authors:
Garland, Jennifer; Stephen, Joshi; Class, Bradley; Gruber, Angela; Ciccone, Carla; Poliak, Aaron; Hayes, Christina P.; Singhal, Vandana; Slota, Christina; Perreault, John; Gavrilova, Ralitza; Shrader, Joseph A.; Chittiboina, Prashant; Joe, Galen; Heiss, John; Gahl, William A.; Huizing, Marjan; Ca...
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 5:Issue 4(2017)
Page Start:
410
Record Type:
Journal Article
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