Guttate hypopigmentation in Darier disease: A rare presentation by Aradhana Rout, Ashish Kumar Pandey, Karthi Kishore

Subjects: “…autosomal dominant…”
Get full text

Steatocystoma Multiplex: “Keep me in your Differentials” by Sudha Sharma, V. Anish Chandran, Praveen Kumar Shukla, Ajay Kumar

Subjects: “…autosomal dominant…”
Get full text

Unusual familial cystic kidney disease: combining fine radiologic and genetic evaluation to solve the case by Sylvain Bodard, Rim Nabbout, Olivier Hélénon, Bertrand Knebelmann

Subjects: Get full text

A case report of autosomal dominant deafness type 2A potentially resulting in muscular dystrophy by Yongyu Yang, Meilian Wang, Yan Lu, Jinliang Wu

Subjects: Get full text

Intracranial aneurysms in autosomal dominant polycystic kidney disease by Jung Hyun Park

Subjects: “…autosomal dominant polycystic kidney…”
Get full text

Neurosurgical aspects of marble bone disease: treatment modalities and outcome by Mahmoud Mohammed Gamal, Roshdy Elkhayat, Hassan Mohammed Hassan

Subjects: Get full text

A Comprehensive Case Report on Familial Multiple Lipomatosis by Fatima Ali Raza, Syed Abdullah Monawwer, Muhammad Husnain, Darja Golubeva, Laveeza Fatima, Md Ariful Haque

Subjects: “…autosomal dominant disorder…”
Get full text

Spot Versus 24-Hour Urine Osmolality Measurement in Autosomal Dominant Polycystic Kidney Disease: A Diagnostic Test Study by Ayub Akbari, Sriram Sriperumbuduri, Shreepryia Mangalgi, Vijay Joshi, Manish Sood, Amos Buh, Mohan Biyani, Christopher McCudden, Gregory L. Hundemer, Pierre Antoine Brown

Subjects: Get full text

Rheumatoid-like hand deformities and aortic valve disease in a 13-year-old girl with homozygous familial hypercholesterolemia: a case report by Anjuman Ara Rahman, Abhijit Datta, Kamal Uddin Ahmed, Anindita Das Barshan, Mohammad Jahid Hasan

Subjects: Get full text

A novel SBF1 missense mutation causes autosomal dominant Charcot–Marie–Tooth disease type 4B3 by Huaqi Liu, Huaqi Liu, Jing Dong, Jing Dong, Zhe Xie, Zhe Xie, Li Yu, Li Yu

Subjects: Get full text

A new atypical splice mutation in PKD2 leading to autosomal dominant polycystic kidney disease in a Chinese family by Junlin Zhang, Yiting Wang, Yingwang Zhao, Fang Liu

Subjects: Get full text

Monogenic causes of familial short stature by Lukas Plachy, Petra Dusatkova, Shenali Anne Amaratunga, Vit Neuman, Zdenek Sumnik, Jan Lebl, Stepanka Pruhova

Subjects: Get full text

Multisystemic impact of autosomal dominant polycystic kidney disease: A case report highlighting renal, hepatic, and neurological involvement by Ibrahim Khalil, MBBS, Ahmed Fahim Faiyaz, MBBS, Md. Imran Hossain, MBBS, Mahmuda Akter, MBBS

Subjects: “…Autosomal dominant polycystic kidney disease…”
Get full text

Oligogenic effect is associated with the clinical heterogeneity of autosomal dominant deafness-15 by Jianyan Pan, Hua Teng, Fang Liu, Siyi Chen, Yaning Liu, Yanling Teng, Desheng Liang, Zhuo Li, Lingqian Wu

Subjects: “…Autosomal dominant deafness…”
Get full text

Significance of bleeding control in hemorrhagic cyst infection in autosomal dominant polycystic kidney disease: a case presentation with literature review by Shunsuke Takayanagi, Keita P. Mori, Shigeto Kubo, Natsumi Mishima, Tomoka Watanabe, Mea Asou, Misaki Taniguchi, Miho Miyauchi, Yoshiaki Higashi, Takaya Handa, Tomomi Endo, Takeshi Matsubara, Tatsuo Tsukamoto

Subjects: “…Autosomal dominant polycystic kidney disease…”
Get full text

An extracellular vesicle based hypothesis for the genesis of the polycystic kidney diseases by Marie C. Hogan, Christopher J. Ward

Subjects: Get full text

The Genetics of Parkinson’s Disease by Levent Şimşek, Emine Berrin Yüksel, Zeliha Yücel

Subjects: Get full text

Eight-fold increased COVID-19 mortality in autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations: an observational study by Kendrah O. Kidd, Adrienne H. Williams, Abbigail Taylor, Lauren Martin, Victoria Robins, John A. Sayer, Eric Olinger, Holly R. Mabillard, Gregory Papagregoriou, Constantinos Deltas, Christoforos Stavrou, Peter J. Conlon, Richard Edmund Hogan, Elhussein A.E. Elhassan, Drahomíra Springer, Tomáš Zima, Claudia Izzi, Alena Vrbacká, Lenka Piherová, Michal Pohludka, Martin Radina, Petr Vylet’al, Katerina Hodanova, Martina Zivna, Stanislav Kmoch, Anthony J. Bleyer

Subjects: “…Autosomal Dominant Tubulointerstitial kidney disease…”
Get full text

Evaluating the Efficacy and Safety of Tolvaptan in Patients with Autosomal Dominant Polycystic Kidney Disease: A Systematic Review and Meta-Analysis of Randomized Controlled Trials by Mohamed Ibrahim, Ibrahim Nagmeldin Hassan, Ahmed Mohammed Alhassan Ismail Abdulsamad

Subjects: “…Autosomal dominant polycystic kidney disease (ADPKD)…”
Get full text

Leveraging Explainable Artificial Intelligence (XAI) for Expert Interpretability in Predicting Rapid Kidney Enlargement Risks in Autosomal Dominant Polycystic Kidney Disease (ADPKD... by Latifa Dwiyanti, Hidetaka Nambo, Nur Hamid

Subjects: “…autosomal dominant polycystic kidney disease (ADPKD)…”
Get full text