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NARA Subscribed6
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Springer Nature6
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Glycoconjugate Journal1
Human Genetics4
Molecular and Cellular Biochemistry1
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20172
20132
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19971
Marjan Huizing results 6 · Newest (Page 1/1, per page 25)
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Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiencyNARA Subscribed
Human Genetics · 2017 · Vol. 136 · Issue 4 · Springer
Joshi Stephen; Thierry Vilboux; Luhe Mian; Chulaluck Kuptanon; Courtney M. Sinclair; Deniz Yildirimli; Dawn M. Maynard; Joy Bryant; Roxanne Fischer; Meghana Vemulapalli; James C. Mullikin; Marjan Huizing; William A. Gahl; May Christine V. Malicdan; Meral Gunay-Aygun
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Exome analysis of Smith–Magenis-like syndrome cohort identifies de novo likely pathogenic variantsNARA Subscribed
Human Genetics · 2017 · Vol. 136 · Issue 4 · Springer
Seth I. Berger; Carla Ciccone; Karen L. Simon; May Christine Malicdan; Thierry Vilboux; Charles Billington; Roxanne Fischer; Wendy J. Introne; Andrea Gropman; Jan K. Blancato; James C. Mullikin; William A. Gahl; Marjan Huizing; Ann C. M. Smith
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Disorders with similar clinical phenotypes reveal underlying genetic interaction: SATB2 acts as an activator of the UPF3B geneNARA Subscribed
Human Genetics · 2013 · Vol. 132 · Issue 12 · Springer
Petcharat Leoyklang; Kanya Suphapeetiporn; Chalurmpon Srichomthong; Siraprapa Tongkobpetch; Stefanie Fietze; Heidi Dorward; Andrew R. Cullinane; William A. Gahl; Marjan Huizing; Vorasuk Shotelersuk
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Murine isoforms of UDP-GlcNAc 2-epimerase/ManNAc kinase: Secondary structures, expression profiles, and response to ManNAc therapyNARA Subscribed
Glycoconjugate Journal · 2013 · Vol. 30 · Issue 6 · Springer
Tal Yardeni; Katherine Jacobs; Terren K. Niethamer; Carla Ciccone; Yair Anikster; Natalya Kurochkina; William A. Gahl; Marjan Huizing
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Hermansky-Pudlak syndrome type 4 (HPS-4): clinical and molecular characteristicsNARA Subscribed
Human Genetics · 2003 · Vol. 113 · Issue 1 · Springer
Paul D. Anderson; Marjan Huizing; David A. Claassen; James White; William A. Gahl
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Defects in the mitochondrial energy metabolism outside the respiratory chain and the pyruvate dehydrogenase complexNARA Subscribed
Molecular and Cellular Biochemistry · 1997 · Vol. 174 · Issue 1-2 · Springer
Frans J.M. Trijbels; Wim Ruitenbeek; Marjan Huizing; Udo Wendel; Jan A.M. Smeitink; Rob C.A. Sengers
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