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Case Reports in Genetics|November 22, 2017
Methylmalonic Acidemia with Novel MUT Gene MutationsInusha Panigrahi, Savita Bhunwal, Harish Varma, et al.Case Reports in Genetics|September 21, 2017
FOXE1 Mutation Screening in a Case with Cleft Lip, Hypothyroidism, and Thyroid Carcinoma: A New Syndrome?Hugo Mendieta-Zerón, Angélica Jiménez-Rosales, Carlos Jhovani Pérez-Amado, et al.Case Reports in Genetics|September 10, 2020
A Japanese Patient with Genitopatellar Syndrome Transiently Presenting with Cardiac Intramural Cavity during the Neonatal PeriodKiichi Takahashi, Hiroyuki Adachi, Manatomo Toyono, et al.Case Reports in Genetics|October 21, 2020
Hepatocellular Carcinoma in a 24-Year-Old Female with Beckwith-Wiedemann Syndrome: A Case Report and Review of the LiteratureCarolyn G Ahlers, Quoc-Huy Trinh, Martin MontenovoCase Reports in Genetics|January 9, 2023
The Benefits of Early versus Late Therapeutic Intervention in Fabry DiseaseMónica Furlano, Elisabet Ars, Anna Matamala, et al.Case Reports in Genetics|December 14, 2020
Genetic Testing Distinguishes Multiple Chondroid Chordomas with Neuraxial Bone Metastases from Multicentric TumorsHiroshi Kobayashi, Masahiro Shin, Naohiro Makise, et al.Case Reports in Genetics|September 16, 2020
An Adolescent with a Rare De Novo Distal Trisomy 6p and Distal Monosomy 6q Chromosomal CombinationLeia A Peterman, Gail H Vance, Erin E Conboy, et al.Case Reports in Genetics|October 30, 2020
Hyperkalemic Periodic Paralysis: Case Report with a SCNA4 Gene Mutation and Literature ReviewManuela Quiroga-Carrillo, Cristian Correa-Arrieta, Fernando Ortiz-Corredor, et al.Case Reports in Genetics|August 9, 2019
Increasing Evidence for the Association of Breast Implant-Associated Anaplastic Large Cell Lymphoma and Li Fraumeni SyndromeJulian Adlard, Cathy Burton, Philip TurtonCase Reports in Genetics|April 9, 2014
Previously Unreported Chromosomal Aberrations of t(3;3)(q29;q23), t(4;11)(q21;q23), and t(11;18)(q10;q10) in a Patient with Accelerated Phase Ph+ CMLCigdem Aydin, Zafer Cetin, Ozan Salim, et al.Pageof 35