Genetics of Autosomal Dominant Partial Epilepsy with Auditory Features (ADPEAF)

by J Gordon Millichap
Published 2008-09-01

Robinow Syndrome: A Rare Diagnosis

by Shubhankar Mishra, Sunil Kumar Agarwalla, Swayanprava Pradhan
Published 2015-12-01

Familial Hypokalemic Periodic Paralysis: A Case Report

by Semih KORKUT, Hayati KANDİŞ, Harun GÜNEŞ, Esin KORKUT
Published 2010-11-01

Steatocystoma Multiplex-A Rare Genetic Disorder: A Case Report and Review of the Literature

by Hemlata T. Kamra, Pradeep A. Gadgil, Ajay G. Ovhal, Rahul R. Narkhede
Published 2013-01-01

Amelogenesis Imperfecta - An account of Three Generations affected in a Family

by G Sarat, Arindam Sarkar, S Suhas, Keerthilatha M Pail
Published 2004-01-01

Piebaldism: A brief report and review of the literature

by Saurabh Agarwal, Amit Ojha
Published 2012-01-01

Premature Craniosynostosis in a Rare Genetic Disease- A Case Report

by Hasnain Abbas Dharamshi, Tufail Raza, Ali Abbas Mohsin Ali, Zuhair Lilani, Syed Zohaib Ahsan, Ahmad Faraz, Syeda Tahira Naqvi
Published 2015-03-01

Tourette Syndrome Maturational Changes

by J Gordon Millichap
Published 1998-07-01

AUTOSOMAL – DOMINANT POLYCYSTIC KIDNEY DISEASE – A GLEAM OF HOPE?

by V.V. Doretskyi, Y.V. Doretskyi
Published 2014-01-01

Genetic analysis of a Chinese family with autosomal dominant congenital cataract

by Han Wang, Tian-Xiao Zhang, Di Wu, Jin-Song Zhang
Published 2013-08-01

A case of Spinocerebellar Ataxia from ethnic tribe of Assam

by Kayal Ashok, Goswami Munindra, Das Marami, Masaraf Hussain
Published 2011-01-01

Grade V cherubism: A rare and aggressive entity

by Karthikeya Patil, V G Mahima, S Sudhakar
Published 2009-01-01

Marfan syndrome

by T Sivasankari, Philips Mathew, Ravi David Austin, Sakthi Devi
Published 2017-01-01

Pachyonychia congenita: A case report

by Silpa Ramachandran, Suman Jhansi Lakshmi, Elangovan Somasundaram, Senthil Kumar Balasubramanian
Published 2019-01-01

Hereditary Essential Tremor

by J Gordon Millichap
Published 1994-11-01

Anesthesia Management in Achondroplasia: A Case Report

by Houman Teymourian, Hamidreza Azizi Faresani, Faranak Behnaz, Arash Tafrishinejad, Hamideh Ariannia, Sogol Asgari
Published 2021-05-01

Results of kidney transplantation in patients with end-stage renal failure caused by autosomal dominant polycystic kidney disease

by V. S. Daineko, A. N. Ananiev, E. S. Nevirovich, A. E. Skvorcov, S. A. Budylev, А. N. Selivanov, M. M. Moskalenko, V. A. Manukovskiy, O. N. Reznik
Published 2019-07-01

Familial Cleidocranial Dysplasia in a Neonate: A Case Report

by Kalyan Konda, Devendar Katkuri, Kasi Viswanath Reddy, Joshua Rajan X, Leslie Edward Lewis
Published 2018-05-01

Longitudinal amyloid and tau accumulation in autosomal dominant Alzheimer’s disease: findings from the Colombia-Boston (COLBOS) biomarker study

by Justin S. Sanchez, Bernard J. Hanseeuw, Francisco Lopera, Reisa A. Sperling, Ana Baena, Yamile Bocanegra, David Aguillon, Edmarie Guzmán-Vélez, Enmanuelle Pardilla-Delgado, Liliana Ramirez-Gomez, Clara Vila-Castelar, Jairo E. Martinez, Joshua T. Fox-Fuller, Claudia Ramos, Martin Ochoa-Escudero, Sergio Alvarez, Heidi I. L. Jacobs, Aaron P. Schultz, Jennifer R. Gatchel, J. Alex Becker, Samantha R. Katz, Danielle V. Mayblyum, Julie C. Price, Eric M. Reiman, Keith A. Johnson, Yakeel T. Quiroz
Published 2021-01-01

Dental Management of a Child with Dentinogenesis Imperfecta: A Case Report

by Najmeh Akhlaghi, Ali-Reza Eshghi, Mehrnaz Mohamadpour
Published 2016-10-01