Case Reports in Genetics: 2022, vol: 2022, issue:
- 1)- Hyelin You, David Sierpina. A Novel Pathogenic Variant in the RDH5 Gene in a Patient with Fundus Albipunctatus and Severe Macular Atrophy. Case reports in genetics. 2022, 2022: 1183772
Cited : 0Read More - 2)- Akihiro Kirimura, Hajime Yasuhara, Soshi Hachisuka, Kumiko Takagi, Reiko Ebisu, Ayako Ohgitani, Hideki Minowa. A Neonatal Patient Diagnosed with a Mutation Presenting with Hemorrhagic Infarction and Severe Jaundice. Case reports in genetics. 2022, 2022: 1594364Cited : 0Read More
- 3)- Amal Al-Naimi, Haneen Toma, Sara G Hamad, Tawfeg Ben Omran. Farber Disease Mimicking Juvenile Idiopathic Arthritis: The First Reported Case in Qatar and Review of the Literature. Case reports in genetics. 2022, 2022: 2555235Cited : 0Read More
- 4)- Zul Qarnain, Fatima Khan, Fizza Akbar, Salman Kirmani. Novel Homozygous TTI2 Variant Causing Autosomal Recessive Syndromic Intellectual Disability and Primary Microcephaly from Pakistan: A Case Report (Exome Report). Case reports in genetics. 2022, 2022: 2766957Cited : 0Read More
- 5)- Fatemeh Tahghighi, Mahdieh Vahedi, Nima Parvaneh, Mohammad Shahrooei, Vahid Ziaee. The Efficacy of Anti-Tumor Necrosis Factor Therapy in Cryopyrin-Associated Periodic Syndromes: A Report of Two Cases. Case reports in genetics. 2022, 2022: 2898553Cited : 1Read More
- 6)- Mónica Furlano, Elisabet Ars, Anna Matamala, Vicens Brossa, Joan Martí, Maria Del Prado-Venegas, Jaume Crespi, Esther Roe, Roser Torra. The Benefits of Early versus Late Therapeutic Intervention in Fabry Disease. Case reports in genetics. 2022, 2022: 3208810Cited : 0Read More
- 7)- Jonas Gustafson, Maria Bjork, Conny M A van Ravenswaaij-Arts, Michael L Cunningham. Mechanism of Disease: Recessive ADAMTSL4 Mutations and Craniosynostosis with Ectopia Lentis. Case reports in genetics. 2022, 2022: 3239260Cited : 2Read More
- 8)- Rhea Camille R Yumul, Mary Anne D Chiong. Rubinstein-Taybi Syndrome in a Filipino Infant with a Novel Gene Pathogenic Variant. Case reports in genetics. 2022, 2022: 3388879Cited : 0Read More
- 9)- Mahpara Hasan, Gayatra Mainali, Ermal Aliu, Sita Paudel. A Case of Autosomal Recessive Intellectual Developmental Disorder Type 5 Presenting with Epilepsy. Case reports in genetics. 2022, 2022: 4056780Cited : 0Read More
- 10)- Hossein Esmaeilzadeh, Rafat Noeiaghdam, Leila Johari, Seyed Ali Hosseini, Sayyed Hesamedin Nabavizadeh, Soheila Sadat Alyasin. Homozygous Autosomal Recessive Mutation Associated with Central Nervous System Involvement and Aspergillosis: A Rare Case. Case reports in genetics. 2022, 2022: 4142214Cited : 0Read More
- 11)- Shir Wey Gloria Pang, Hencher Han Chih Lee, Carol Ng Wing Kei, Eric Kin Cheong Yau, Joannie Hui. Kearns-Sayre Syndrome Minus: Two Cases of Identical Large-Scale Mitochondrial DNA Deletions with Presentations outside the Classical Triad. Case reports in genetics. 2022, 2022: 4153357Cited : 0Read More
- 12)- Rafat Mosalli, Alfia Fatma, Mohammed A Almatrafi, Mayada Mazroua, Bosco Paes. De Novo Heterozygous Mutation in FGFR2 Causing Type II Pfeiffer Syndrome. Case reports in genetics. 2022, 2022: 4791082Cited : 0Read More
- 13)- Kosei Hasegawa, Hiroyuki Tanaka, Natsuko Futagawa, Hiroyuki Miyahara, Hirokazu Tsukahara. Rapid Progression of Heterotopic Ossification in Severe Variant of Fibrodysplasia Ossificans Progressiva with p.Arg258Gly in ACVR1: A Case Report and Review of Clinical Phenotypes. Case reports in genetics. 2022, 2022: 5021758Cited : 1Read More
- 14)- Frouzandeh Mahjoubi, Samira Shabani, Sogand Khakbazpour, Aylar Khaligh Akhlaghi. Novel Mutation Associated with Vici Syndrome Gene. Case reports in genetics. 2022, 2022: 5452944Cited : 0Read More
- 15)- Dinusha Pandithan, Sonja Klebe, Grace McKavanagh, Lesley Rawlings, Sui Yu, Jillian Nicholl, Nicola Poplawski. BAP1 Tumour Predisposition Syndrome Due to Whole BAP1 Gene Deletion. Case reports in genetics. 2022, 2022: 5503505Cited : 2Read More
- 16)- Yanjie Qian, Xiaoying Wang, Wei Tang, Chaochun Zou. Microdeletion of 4p16.2 in Children: A Case Report and Literature Review. Case reports in genetics. 2022, 2022: 6253690Cited : 0Read More
- 17)- Hongyan Chai, Fang Xu, Autumn DiAdamo, Brittany Grommisch, Huanzhi Mao, Peining Li. Cytogenomic Characterization of Giant Ring or Rod Marker Chromosome in Four Cases of Well-Differentiated and Dedifferentiated Liposarcoma. Case reports in genetics. 2022, 2022: 6341207Cited : 3Read More
- 18)- Krishna Gundabolu, Bhavana J Dave, Carmelita J Alvares, Jeffrey J Cannatella, Vijaya R Bhatt, Lori J Maness, Zaid S Al-Kadhimi, Rana K Zabad, Allison M Cushman-Vokoun. The Missing LNK: Evolution from Cytosis to Chronic Myelomonocytic Leukemia in a Patient with Multiple Sclerosis and Germline SH2B3 Mutation. Case reports in genetics. 2022, 2022: 6977041Cited : 0Read More
- 19)- Jiyoung Kim, Angela Pipitone Dempsey, Sun Young Kim, Meral Gunay-Aygun, Hilary J Vernon. An Atypical Presentation of Pyridoxine-Dependent Epilepsy Diagnosed with Whole Exome Sequencing and Treated with Lysine Restriction and Supplementation with Arginine and Pyridoxine. Case reports in genetics. 2022, 2022: 7138435Cited : 1Read More
- 20)- Julie Fischer, Luis Rohena. Novel Phenotype in Unbalanced 7;9 Translocation with Critical Incidental Finding. Case reports in genetics. 2022, 2022: 7510079Cited : 0Read More
- 21)- Jordan H Driskill, Helena Hwang, Alexandra K Callan, Dwight Oliver. Case Report of Fibro-Adipose Vascular Anomaly (FAVA) with Activating Somatic Mutation. Case reports in genetics. 2022, 2022: 9016497Cited : 0Read More
- 22)- Maha Saleh, Samantha Colaiacovo, Melanie P Napier, Asuri N Prasad, C Anthony Rupar, Chitra Prasad. Pitfalls in Genetic Testing for Consanguineous Pediatric Populations. Case reports in genetics. 2022, 2022: 9393042Cited : 0Read More
