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Journal of Visualized Experiments : Jove|December 30, 2017
A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain MalformationsValerio Conti, Aurelie Carabalona, Emilie Pallesi-Pocachard, et al.
Cell Reports|May 31, 2016
De Novo Mutations in DENR Disrupt Neuronal Development and Link Congenital Neurological Disorders to Faulty mRNA Translation Re-initiationMatilda A Haas, Linh Ngo, Shan Shan Li, et al.
Genome Medicine|April 13, 2021
Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypesZheng Yie Yap, Yo Han Park, Saskia B Wortmann, et al.
Kidney International|July 27, 2020
A study from The Mayo Clinic evaluated long-term outcomes of kidney transplantation in patients with immunoglobulin light chain amyloidosisCihan Heybeli, Andrew Bentall, Jiqiu Wen, et al.
American Journal of Human Genetics|January 21, 2014
Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardationMalcolm F Howard, Yoshiko Murakami, Alistair T Pagnamenta, et al.
Human Molecular Genetics|August 22, 2015
Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficienciesBiljana Ilkovski, Alistair T Pagnamenta, Gina L O'Grady, et al.
Kidney International|September 5, 2020
HLA-D and PLA2R1 risk alleles associate with recurrent primary membranous nephropathy in kidney transplant recipientsLena Berchtold, Eric Letouzé, Mariam Priya Alexander, et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation|June 27, 2021
Kidney Transplantation in Patients With Monoclonal Gammopathy of Renal Significance (MGRS)-Associated Lesions: A Case SeriesCihan Heybeli, Mariam Priya Alexander, Andrew J Bentall, et al.
Indian Journal of Pathology & Microbiology|June 17, 2021
Best practices of handling, processing, and interpretation of small intestinal biopsies for the diagnosis and management of celiac disease: A joint consensus of Indian association of pathologists and microbiologists and Indian society of gastroenterologyPrasenjit Das, Kim Vaiphei, Anjali D Amarapurkar, et al.
American Journal of Medical Genetics. Part A|March 15, 2016
Cerebro-costo-mandibular syndrome: Clinical, radiological, and genetic findingsMadeleine Tooley, Danielle Lynch, Francois Bernier, et al.
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