LATEST MANUSCRIPTS IN Case Reports in Genetics
- Elizaveta Makarova, Nicole R Legro, Ermal Aliu. A Case of Congenital Hypotonia and Developmental Delay in an Individual with a Variant Outside of the Canonical HX-Motif of ATN1. Case reports in genetics. 2023, 2023: 1581876
Cited : 0Read More - Khaliunaa Bayanbold, Georgianne Younger, Benjamin Darbro, Alpa Sidhu. Mosaicism in -Related Neurodevelopmental Disorder: Report of Two Sisters and Literature Review. Case reports in genetics. 2023, 2023: 1692422Cited : 0Read More
- Michael Gibbs, Alysa Poulin, Yanwei Xi, Bita Hashemi. A Prenatal Presentation of CDK13-Related Disorder with a Novel Pathogenic Variant. Case reports in genetics. 2023, 2023: 3437706Cited : 0Read More
- Maria Arvio, Jaana Lähdetie, Hannu Koivu, Antti Sohlberg, Eero Pekkonen. Manifestations of Intellectual Disability, Dystonia, and Parkinson's Disease in an Adult Patient with Gene Mutation c.558_560dup p.(Pro187dup). Case reports in genetics. 2023, 2023: 3636748Cited : 0Read More
- Molly M Crenshaw, Sharon L Graw, Dobromir Slavov, Theresa A Boyle, Daniel G Piqué, Matthew Taylor, Peter Baker. An Atypical 15q11.2 Microdeletion Not Involving Resulting in Prader-Willi Syndrome. Case reports in genetics. 2023, 2023: 4225092Cited : 0Read More
- Yukino Kawanami, Tomoko Horinouchi, Naoya Morisada, Takeshi Kato, Kandai Nozu. 4q25 Microdeletion with Axenfeld-Rieger Syndrome and Developmental Delay. Case reports in genetics. 2023, 2023: 4592114Cited : 0Read More
- Palanikumar Balasundaram, Indirapriya Darshini Avulakunta, Leslie Delfiner, Paul Levy, Katie R Forman. Novel TTN Mutation Causing Severe Congenital Myopathy and Uncertain Association with Infantile Hydrocephalus. Case reports in genetics. 2023, 2023: 5535083Cited : 3Read More
- Melissa A Hicks, Salah Ebrahim, Bernard Gonik. Prenatal Lethal Diagnosis of 8p23.1 Duplication Syndrome Associated with Omphalocele and Encephalocele. Case reports in genetics. 2023, 2023: 5958223Cited : 0Read More
- Emilio Israel Wong-Valenzuela, Daniel San Juan, José Santos Zambrano, Alejandra Camacho Molina, Miguel Angel Morales-Morales, Alejandro Lopez-Landa. Recurrent Ischemic Strokes due to Monogenic COL4A1 Mutation: The First Case Report from Latin America. Case reports in genetics. 2023, 2023: 6614837Cited : 0Read More
- Alessia Mingarelli, Giovanni Battista Pipitone, Giacomo Torini, Maria Grazia Patricelli, Martina Totaro, Clara Colonna, Paola Carrera, Federico Raviglione. Behavioral Phenotype, Electroclinical Features, and Treatment Options in Twins with Candidate Variants (Donnay-Barrow/Foar Syndrome). Case reports in genetics. 2023, 2023: 6679572Cited : 0Read More
- Kousar Jahan Syeeda Khursheed, Mohammed Rahman Kaleemullah, Annu Joseph, Mohammed Hasan Al Durazi, Moiz Bakhiet. A Rare 46,X,t(Y;10)(q12;p14) Balanced Translocation in Non-Obstructive Azoospermic Patient with Elevated FSH and LH Levels. Case reports in genetics. 2023, 2023: 6722623Cited : 0Read More
- Luna Bajracharya, Meena Lall, Sunita Bijarnia-Mahay, Praveen Kumar, Imran Mushtaq, Pushpa Saviour, Preeti Paliwal, Anju Joshi, Shruti Agarwal, Praveen Suman. A Rare Case of Mosaic 3pter and 5pter Deletion-Duplication with Autism Spectrum Disorder and Dyskinesia. Case reports in genetics. 2023, 2023: 7974886Cited : 0Read More
- Melissa A Hicks, Emilie Lalonde, Jessica Zoladz, Bernard Gonik, Salah Ebrahim. A Diagnosis of Maternal 22q Duplication and Mosaic Deletion following Prenatal Cell-Free DNA Screening. Case reports in genetics. 2023, 2023: 9127430Cited : 0Read More
- Yu Han, Jiebin Wu, Fangfang Tan, Jing Sha, Bei Zhang, Jingfang Zhai, Xuezhen Wang. 45, X/ 46, X, psu idic (Y) (q11.2) Mosaicism in a Primary Amenorrhea Girl with Swyer Syndrome. Case reports in genetics. 2023, 2023: 9127512Cited : 0Read More
- Hossein Jalali, Mahan Mahdavi, Mohammad Eslamijouybari, Mohammad Reza Mahdavi. Coinheritance of the c.-19 G > C and c.315 + 1 G > A Variants in the -Globin Gene Leads to Thalassemia Disease: A Report from the North of Iran. Case reports in genetics. 2023, 2023: 9950421Cited : 0Read More
