Granadillo Jorge L

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论文共 29 篇作者统计合作学者相似作者

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Clinical and Functional Studies of MTOR Variants in Smith-Kingsmore Syndrome Reveal Deficits of Circadian Rhythm and Sleep-Wake Behavior

Andrew C. Liu,Yang Shen,Carolyn R. Serbinski, Hongzhi He, Destino Roman,Mehari Endale,Lindsey Aschbacher-Smith, Katherine A. King,Jorge L. Granadillo, Isabel Lopez,Darcy A. Krueger,Thomas J. Dye,David F. Smith,John B. Hogenesch,Carlos E. Prada

HUMAN GENETICS AND GENOMICS ADVANCESno. 4 (2024)

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Telehealth is Effective in the Evaluation of Individuals with Undiagnosed Rare Disorders: an Undiagnosed Diseases Network Study

Queenie K. -G. Tan, Allyn McConkie-Rosell, Rachel Mahoney, Rebecca C. Spillmann,Kelly Schoch, Sirisak Chanprasert, Maria T. Acosta,Camilo Toro, Jill A. Rosenfeld, James P. Orengo,Daryl A. Scott,Jorge L. Granadillo,Kathleen Sisco,Daniel J. Wegner,Mustafa Tekin, Stephanie Bivona,Leshon Peart,Lance Rodan,Devon Bonner, Matthew T. Wheeler, Jonathan A. Bernstein,Maura Ruzhnikov, David R. Adams, Fuki M. Hisama,Vandana Shashi

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2024)

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Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-associated Neurodevelopmental Disorder

Maria Carla Borroto, Heena Patel,Siddharth Srivastava,Lindsay C. Swanson,Boris Keren,Sandra Whalen,Cyril Mignot, Xiaodong Wang,Qian Chen,Jill A. Rosenfeld,Scott McLean,Rebecca O. Littlejohn,Lisa Emrick,Lindsay C. Burrage,Ruben Attali,Gaetan Lesca,Cecile Acquaviva-Bourdain,Catherine Sarret,Laurie H. Seaver,Konrad Platzer,Tobias Bartolomaeus, Cornelia Wuensch, Susann Fischer, Ana Maria Rodriguez Barreto,Jorge L. Granadillo,Elisabeth Schreiner,Theresa Brunet,Ulrich A. Schatz,Isabelle Thiffault,Sureni V. Mullegama,Jacques L. Michaud,Fadi F. Hamdan,Elsa Rossignol,Philippe M. Campeau

PEDIATRIC NEUROLOGY (2024): 45-53

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MFSD7c Functions As a Transporter of Choline at the Blood-Brain Barrier

CELL RESEARCHno. 3 (2024): 245-257

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De Novo Variants in GATAD2A in Individuals with a Neurodevelopmental Disorder: GATAD2A-related Neurodevelopmental Disorder

Elizabeth A. Werren, Alba Guxholli,Natasha Jones,Matias Wagner,Iris Hannibal,Jorge L. Granadillo,Amanda Tyndall,Amanda Moccia, Ryan Kuehl, Kristin M. Levandoski,Debra L. Day-Salvatore,Marsha Wheeler,Jessica X. Chong,Michael J. Bamshad,A. Micheil Innes,Tyler Mark Pierson,Joel P. Mackay,Stephanie L. Bielas,Donna M. Martin

HUMAN GENETICS AND GENOMICS ADVANCESno. 3 (2023)

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In Vitro Anti-sense Oligonucleotide (ASO) Correction and Population-based Frequency of a Pathogenic ABCA3 Splicing Variant Associated with Lethal Neonatal RDS

D. J. Wegner, G. Giraldo,A. Uribe,J. Granadillo,P. Yang, K. Xu, M. Leff,F. Cole,J. Wambach

AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE (2023)

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Ep015: COQ5 Compound Heterozygous Variants in a Family with Global Developmental Delay, Seizures, Spastic Paraparesis, and Stroke

Jorge Granadillo,Samantha Toy

Genetics in Medicine（2022）

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Treatment Dilemmas in an Individual Diagnosed with Infantile-Onset Pompe Disease and Sickle-Cell Anemia

Rodrigo T. Starosta,Prapti Singh,Hoanh T. Nguyen,Katelyn Leestma,Linda Manwaring, Leia Peterman,Karolina Kata, Jamie Colombo,Monica Hulbert,Jorge L. Granadillo,Patricia Dickson

Molecular genetics and metabolism（2022）

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论文共 29 篇作者统计合作学者相似作者