Characterization of the genotypes of patients with Gaucher disease type 1 in the Russian Federation

by K A Lukina, I S Fevraleva, E P Sysoeva, V E Mamonov, A B Sudarikov, E A Lukina
Published 2013-07-01

Editorial: Autoinflammatory Diseases: From Genes to Bedside

by Ivona Aksentijevich, Alessandra Soriano, José Hernández-Rodríguez
Published 2020-06-01

Novel FH mutation associated with multiple uterine leiomyomas in Chinese siblings

by Zichen Zhao, Wenhui Wang, Yan You, Lan Zhu, Fengzhi Feng
Published 2020-01-01

Space Radiation Alters Genotype–Phenotype Correlations in Fear Learning and Memory Tests

by Ovidiu Dan Iancu, Sydney Weber Boutros, Reid H. J. Olsen, Matthew J. Davis, Blair Stewart, Massarra Eiwaz, Tessa Marzulla, John Belknap, Christina M. Fallgren, Elijah F. Edmondson, Michael M. Weil, Jacob Raber, Jacob Raber
Published 2018-10-01

Familial Adenomatous Polyposis: Experience from a Study of 1164 Unrelated German Polyposis Patients

by Friedl Waltraut, Aretz Stefan
Published 2005-09-01

Autosomal recessive polycystic kidney disease: case report of a newborn with rare PKHD1 mutation, rapid renal enlargement and early fatal outcome

by Gregorio Serra, Giovanni Corsello, Vincenzo Antona, Maria Michela D’Alessandro, Nicola Cassata, Marcello Cimador, Mario Giuffrè, Ingrid Anne Mandy Schierz, Ettore Piro
Published 2020-10-01

Detecting significant genotype–phenotype association rules in bipolar disorder: market research meets complex genetics

by René Breuer, Manuel Mattheisen, Josef Frank, Bertram Krumm, Jens Treutlein, Layla Kassem, Jana Strohmaier, Stefan Herms, Thomas W. Mühleisen, Franziska Degenhardt, Sven Cichon, Markus M. Nöthen, George Karypis, John Kelsoe, Tiffany Greenwood, Caroline Nievergelt, Paul Shilling, Tatyana Shekhtman, Howard Edenberg, David Craig, Szabolcs Szelinger, John Nurnberger, Elliot Gershon, Ney Alliey-Rodriguez, Peter Zandi, Fernando Goes, Nicholas Schork, Erin Smith, Daniel Koller, Peng Zhang, Judith Badner, Wade Berrettini, Cinnamon Bloss, William Byerley, William Coryell, Tatiana Foroud, Yirin Guo, Maria Hipolito, Brendan Keating, William Lawson, Chunyu Liu, Pamela Mahon, Melvin McInnis, Sarah Murray, Evaristus Nwulia, James Potash, John Rice, William Scheftner, Sebastian Zöllner, Francis J. McMahon, Marcella Rietschel, Thomas G. Schulze
Published 2018-11-01

Clinical presentation of juvenile Huntington disease

by Ruocco Heloísa H., Lopes-Cendes Iscia, Laurito Tiago L., Li Li M., Cendes Fernando
Published 2006-01-01

Cryptic Chromosome Rearrangements in Five Patients, with Normal and/or Abnormal Karyotypes, Associated with Mental Retardation, Autism and/or Epilepsy, Detected by BAC Genome Array...

by V. Cabras, A. Milia, C. Montaldo, Anna Lisa Nucaro
Published 2012-01-01

FUNCTIONAL ANALYSIS AND GENOTYPE-PHENOTYPE CORRELATIONS IN WILSON DISEASE

by Elena Scvortova
Published 2013-10-01

The evolution of opsins and color vision: connecting genotype to a complex phenotype

by Natasha I Bloch
Published 2016-09-01

A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan

by Yasuyuki Fukuhara, Naoko Fuji, Narutoshi Yamazaki, Asami Hirakiyama, Tetsuharu Kamioka, Joo-Hyun Seo, Ryuichi Mashima, Motomichi Kosuga, Torayuki Okuyama
Published 2018-03-01

A Novel Homozygous Mutation of the AIRE Gene in an APECED Patient From Pakistan: Case Report and Review of the Literature

by Marsha Pellegrino, Emanuele Bellacchio, Rudina Dhamo, Federica Frasca, Corrado Betterle, Alessandra Fierabracci
Published 2018-08-01

Tooth defects of EEC and AEC syndrome caused by heterozygous TP63 mutations in three Chinese families and genotype‐phenotype correlation analyses of TP63‐related disorders

by Jinglei Zheng, Haochen Liu, Yuan Zhan, Yang Liu, Sing‐Wai Wong, Tao Cai, Hailan Feng, Dong Han
Published 2019-06-01

Familial Temperature-Sensitive Auditory Neuropathy: Distinctive Clinical Courses Caused by Variants of the OTOF Gene

by Yi-Ming Zhu, Yi-Ming Zhu, Qi Li, Xue Gao, Yan-Fei Li, You-Li Liu, Pu Dai, Pu Dai, Xiang-Ping Li
Published 2021-10-01

Patient complexity and genotype-phenotype correlations in biliary atresia: a cross-sectional analysis

by Guo Cheng, Patrick Ho-Yu Chung, Edwin Kin-Wai Chan, Man-Ting So, Pak-Chung Sham, Stacey S. Cherny, Paul Kwong-Hang Tam, Maria-Mercè Garcia-Barceló
Published 2017-04-01

Novel mutations in TPM2 and PIEZO2 are responsible for distal arthrogryposis (DA) 2B and mild DA in two Chinese families

by Shan Li, Yi You, Jinsong Gao, Bin Mao, Yixuan Cao, Xiuli Zhao, Xue Zhang
Published 2018-10-01

Genotype-phenotype correlation of HbH disease in northern Iraq

by Rawand P. Shamoon, Ahmed K. Yassin, Ranan K. Polus, Mohamad D. Ali
Published 2020-10-01

Genes underlying the evolution of tetrapod testes size

by Joanna Baker, Andrew Meade, Chris Venditti
Published 2021-08-01

Atypical long QT syndrome phenotype in heterozygous/homozygous KCNQ1 Ala590Thr

by Justin D. Smith, MD, Jeffrey M. Vinocur, MD
Published 2017-04-01