A Korean Patient With Leber Congenital Amaurosis and a Homozygous RPE65 Variant Originating From a Paternal Uniparental Isodisomy by Hane Lee, Dongseok Moon, Rin Khang, Go Hun Seo, Chang Ki Yoon, Un Chul Park, Kyu Hyung Park, Eun Kyoung Lee

“…Molecular Genetics & Genomic Medicine…”
Get full text

A De Novo Frameshift Variant in SMC1A Causes Non‐Classic Cornelia de Lange Syndrome With Epilepsy: A Case Report and Literature Review by Ying Yang, Liqing Chen, Zhenzhen Wang, Yaling Ding, Yan Liu

“…Molecular Genetics & Genomic Medicine…”
Get full text

Carglumic acid as a treatment for persistent hyperammonemia in carnitine-acylcarnitine translocase deficiency: A case study by Hanım Babazade, Tanyel Zubarioglu, Esma Uygur, Mehmet Şerif Cansever, Ertuğrul Kiykim, Çiğdem Aktuğlu Zeybek

“…Molecular Genetics and Metabolism Reports…”
Get full text

Early warning systems for identifying severe maternal outcomes: findings from the WHO global maternal sepsis studyResearch in context by Yamikani Chimwaza, Alexandra Hunt, Livia Oliveira-Ciabati, Laura Bonnett, Edgardo Abalos, Cristina Cuesta, João Paulo Souza, Mercedes Bonet, Vanessa Brizuela, David Lissauer, Yamikani Chimwaza, Alexandra Hunt, Livia Oliveira-Ciabati, Laura Bonnett, Edgardo Abalos, Cristina Cuesta, João Paulo Souza, Mercedes Bonet, Vanessa Brizuela, David Lissauer, Mohammad Iqbal Aman, Bashir Noormal, Marisa Espinoza, Julia Pasquale, Charlotte Leroy, Kristien Roelens, Griet Vandenberghe, M. Christian Urlyss Agossou, Sourou Goufodji Keke, Christiane Tshabu Aguemon, Patricia Soledad Apaza Peralta, Víctor Conde Altamirano, Rosalinda Hernández Muñoz, José Guilherme Cecatti, Carolina Ribeiro do Valle, Vincent Batiene, Kadari Cisse, Henri Gautier Ouedraogo, Kannitha Cheang, Phirun Lam, Tung Rathavy, Elie Simo, Pierre-Marie Tebeu, Emah Irene Yakana, Javier Carvajal, María Fernanda Escobar, Paula Fernández, Lotte Berdiin Colmorn, Jens Langhoff-Roos, Wilson Mereci, Paola Vélez, Yasser Salah Eldin, Alaa Sultan, Alula M. Teklu, Dawit Worku, Richard Adanu, Philip Govule, Charles Noora Lwanga, William Enrique Arriaga Romero, María Guadalupe Flores Aceituno, Carolina Bustillo, Bredy Lara, Vijay Kumar, Vanita Suri, Sonia Trikha, Irene Cetin, Serena Donati, Carlo Personeni, Guldana Baimussanova, Saule Kabylova, Balgyn Sagyndykova, George Gwako, Alfred Osoti, Zahida Qureshi, Raisa Asylbasheva, Aigul Boobekova, Damira Seksenbaeva, Saad Eddine Itani, Meilė Minkauskienė, Diana Ramašauskaitė, Owen Chikhwaza, Luis Gadama, Eddie Malunga, Haoua Dembele, Hamadoun Sangho, Fanta Eliane Zerbo, Filiberto Dávila Serapio, Nazarea Herrera Maldonado, Juan I. Islas Castañeda, Tatiana Cauaus, Ala Curteanu, Victor Petrov, Yadamsuren Buyanjargal, Seded Khishgee, Bat-Erdene Lkhagvasuren, Amina Essolbi, Rachid Moulki, Zara Jaze, Arlete Mariano, Nafissa Bique Osman, Hla Mya Thway Einda, Thae Maung Maung, Khaing Nwe Tin, Tara Gurung, Amir Babu Shrestha, Sangeeta Shrestha, Kitty Bloemenkamp, Marcus J. Rijken, Thomas Van Den Akker, María Esther Estrada, Néstor J. Pavón Gómez, Olubukola Adesina, Chris Aimakhu, Bukola Fawole, Rizwana Chaudhri, Saima Hamid, M. Adnan Khan, María del Pilar Huatuco Hernández, Nelly M. Zavaleta Pimentel, Maria Lu Andal, Zenaida Dy Recidoro, Carolina Paula Martin, Mihaela Budianu, Lucian Pușcașiu, Léopold Diouf, Dembo Guirassy, Philippe Marc Moreira, Miroslav Borovsky, Ladislav Kovac, Alexandra Kristufkova, Sylvia Cebekhulu, Laura Cornelissen, Priya Soma-Pillay, Vicenç Cararach, Marta López, María José Vidal Benedé, Hemali Jayakody, Kapila Jayaratne, Dhammica Rowel, Wisal Nabag, Sara Omer, Victoria Tsoy, Urunbish Uzakova, Dilrabo Yunusova, Thitiporn Siriwachirachai, Thumwadee Tangsiriwatthana, Catherine Dunlop, Marian Knight, Jhon Roman, Gerardo Vitureira, Dinh Anh Tuan, Luong Ngoc Truong, Nghiem Thi Xuan Hanh, Mugove Madziyire, Thulani Magwali, Stephen Munjanja, Adama Baguiya, Mónica Chamillard, Bukola Fawole, Marian Knight, Seni Kouanda, Pisake Lumbiganon, Ashraf Nabhan, Ruta Nadisauskiene, Linda Bartlett, Fernando Bellissimo-Rodrigues, Shevin T. Jacob, Sadia Shakoor, Khalid Yunis, Liana Campodónico, Hugo Gamerro, Daniel Giordano, Fernando Althabe, A. Metin Gülmezoglu

Get full text

An Egyptian child with Wolman disease presenting with hemophagocytic lymphohistiocytosis by Rabab El Hawary, Safa Meshaal, Alia S. Eldash, Sohilla Lotfy, Dalia Abd Elaziz, Radwa Alkady, Rania Darwish, Aya Erfan, Mai Saad, Engy Chohayeb, Nermeen Galal, Aisha M. Elmarsafy

“…Egyptian Journal of Medical Human Genetics…”
Get full text

Unravelling population structure and marker trait association using SSR markers among the identified drought tolerant rice landraces (Oryza sativa L.) by Shanmugam Manju Devi, John Amalraj Joel, Muthurajan Raveendran, Ramamoorthy Pushpam, Sengalan Muthuramu, Raman Pushpa, N. Sritharan, Periyasamy Prasanna, Ramalingam Suresh

“…Czech Journal of Genetics and Plant Breeding…”
Get full text

Microcephalic osteodysplastic primordial dwarfism type II in four Indian children with PCNT variants by Amit Singh, Mahak Garg, Mohammed Shariq, Preeti Khetarpal, Inusha Panigrahi

“…Egyptian Journal of Medical Human Genetics…”
Get full text

An association study of polymorphisms in the P2RX7 gene in an Iranian population with the risk of type 2 diabetes mellitus by Homa Noori, Majid Rajabian, Mahdi Majidpour, Mahboobeh Sabeti Akbar-Abad, Ramin Saravani

“…Egyptian Journal of Medical Human Genetics…”
Get full text

In silico analysis of hub genes and regulatory networks implicates the putamen in non-motor Parkinson’s disease disorders by Stephen Tunmise Akanbi, Joshua Ayodele Yusuf, Thompson Oluwaferanmi Ayandele, Dayo Samson Oladipupo, Darasimi Racheal Olorunlowu, Blessing Dorcas Olawuyi, Joshua Oluwafisayo Adepoju, Dolapo Emmanuel Opasina, Elizabeth Kehinde Opoola, Uchenna Victor Ugwuanyi, Olufunto Omodele Adeleye

“…Egyptian Journal of Medical Human Genetics…”
Get full text

A comprehensive in silico analysis of structural and functional impacts of natural nonsynonymous SNPs in the ALDH2_HUMAN gene by Mehr Ali Mahmood Janlou

“…Egyptian Journal of Medical Human Genetics…”
Get full text

High levels of type II Fusarium head blight resistance conferred in wheat by combining wheat gene Fhb1 with Lophopyrum elongatum gene Fhb7The2 by Jan Dvorak, Karin R. Deal, Patrick E. McGuire, Emily J. Conley, James A. Anderson, George Fedak, Julia A. Malvick, Han Chen, Hans-Georg Müller

“…Czech Journal of Genetics and Plant Breeding…”
Get full text

In silico analysis of SNPs and miRNAs of KCTD13, CSDE1, SLC6A1 genes associated with autism spectrum disorder by Kübra Çoruh Kınalı, Ebru Özkan Oktay, Mesut Karahan

“…Egyptian Journal of Medical Human Genetics…”
Get full text

Computer-guided identification of novel inhibitors of apoptosis-signaling kinase 1 from Spondia mombim bioactive compounds against colorectal cancer by Olusola Olalekan Elekofehinti, Hannah Oluwaseun Popoola, Adedotun Olayemi Oluwatuyi, Opeyemi Iwaloye, Moses Orimoloye Akinjiyan, Oluwamodupe Cecilia, Frank Abimbola Ogundolie, Olalekan Isaac Olatunde, Oussama Abchir, Samir Chtita, Joao Batista Texeira Rocha

“…Egyptian Journal of Medical Human Genetics…”
Get full text

Non-coding RNAs and exosomal ncRNAs in colorectal cancer by Yalda Zhoulideh

“…Egyptian Journal of Medical Human Genetics…”
Get full text

First African case report of hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome due to inverted duplication and deletion of chromosome 10p by Tumelo M. Satekge, Glenrose Rikhotso, Bianca Rossouw, Bronwyn Dillon, Fiona Baine-Savanhu

“…Egyptian Journal of Medical Human Genetics…”
Get full text

Pyrogallol acts as a novel anticancer factor to enhance the sensitivity to cisplatin in ovarian cancer cells through inducing miR-15a upregulation by Azin Shirani, Razieh Mirabbasi, Leila Shabani, Somayeh Reiisi

“…Egyptian Journal of Medical Human Genetics…”
Get full text

Association of functional variants in miRNA genes with the risk of coronary heart disease by Taqweem Ul Haq, Muhammad Riaz Khan, Sajjad Ali, Tariq Aziz, Thamer H. Albekairi, Aftab Ali Shah

“…Egyptian Journal of Medical Human Genetics…”
Get full text

Correction: Understanding integrative approach of translational bioinformatics on cardiovascular disease: Myocardial Ischemia by Yeswanth Ranganathan, Saayaa Nazar, Ravi Shankar Krishnan, Yuvaraj Dinakarkumar, Vijayalakshmi Varadarajan, Lenita Sebastian, Brindha Rethinam

“…Egyptian Journal of Medical Human Genetics…”
Get full text

Overexpression of a sorghum SnRK1βγ2 gene increases the biomass in Setaria viridis but not in rice by Chudamani Sharma Prakash, Lihua Wang, Qi Shen, Jieqin Li, Yi-Hong Wang

“…Czech Journal of Genetics and Plant Breeding…”
Get full text

Integrative transcriptome profiling for identifying ALS potential treatment using the drug repurposing approach by Navid Kashani, Amir Sabbaghian, Fatemeh EmamiPari, Mohammad Khalili Gorjimahalleh, Mahdi Aalikhani

“…Egyptian Journal of Medical Human Genetics…”
Get full text