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NARA Subscribed5
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Springer Nature5
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Human Genetics2
NeuroMolecular Medicine1
Pharmaceutical Research2
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20231
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20031
Alice Goldenberg results 5 · Newest (Page 1/1, per page 25)
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High diagnostic potential of short and long read genome sequencing with transcriptome analysis in exome-negative developmental disordersNARA Subscribed
Human Genetics · 2023 · Vol. 142 · Issue 6 · Springer
François Lecoquierre; Olivier Quenez; Steeve Fourneaux; Sophie Coutant; Myriam Vezain; Marion Rolain; Nathalie Drouot; Anne Boland; Robert Olaso; Vincent Meyer; Jean-François Deleuze; Dana Dabbagh; Isabelle Gilles; Claire Gayet; Pascale Saugier-Veber; Alice Goldenberg; Anne-Marie Guerrot; Gaël Nicolas
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RNA Sequencing and Pathway Analysis Identify Important Pathways Involved in Hypertrichosis and Intellectual Disability in Patients with Wiedemann–Steiner SyndromeNARA Subscribed
NeuroMolecular Medicine · 2018 · Vol. 20 · Issue 3 · Springer
Léo Mietton; Nicolas Lebrun; Irina Giurgea; Alice Goldenberg; Benjamin Saintpierre; Juliette Hamroune; Alexandra Afenjar; Pierre Billuart; Thierry Bienvenu
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Beyond Glass Transitions: Studying the Highly Viscous and Elastic Behavior of Frozen Protein Formulations Using Low Temperature Rheology and Its Potential Implications on Protein StabilityNARA Subscribed
Pharmaceutical Research · 2013 · Vol. 30 · Issue 2 · Springer
Jian Hua Gu; Alice Beekman; Tian Wu; Deirdre Murphy Piedmonte; Priti Baker; Michael Eschenberg; Michael Hale; Merrill Goldenberg
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Micrometer-Scale Particle Sizing by Laser Diffraction: Critical Impact of the Imaginary Component of Refractive IndexNARA Subscribed
Pharmaceutical Research · 2005 · Vol. 22 · Issue 4 · Springer
Alice Beekman; Daxian Shan; Alana Ali; Weiguo Dai; Stephen Ward-Smith; Merrill Goldenberg
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Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt −1) in the NDUFS4 gene in Leigh syndromeNARA Subscribed
Human Genetics · 2003 · Vol. 112 · Issue 5-6 · Springer
Paule Bénit; Julie Steffann; Sophie Lebon; Dominique Chretien; Noman Kadhom; Pascale de Lonlay; Alice Goldenberg; Yves Dumez; Marc Dommergues; Pierre Rustin; Arnold Munnich; Agnès Rötig
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