Emerging strategies and applications of pharmacogenomics

by Milos Patrice M, Seymour Albert B
Published 2004-11-01

Patterns of Novel Alleles and Genotype/Phenotype Correlations Resulting from the Analysis of 108 Previously Undetected Mutations in Patients Affected by Neurofibromatosis Type I

by Francesco Bonatti, Alessia Adorni, Annalisa Matichecchia, Paola Mozzoni, Vera Uliana, Francesco Pisani, Livia Garavelli, Claudio Graziano, Maria Gnoli, Diana Carli, Stefania Bigoni, Elena Boschi, Davide Martorana, Antonio Percesepe
Published 2017-09-01

Molecular pathogenesis of long QT syndrome type 1

by Jie Wu, PhD, Wei-Guang Ding, MD, PhD, Minoru Horie, MD, PhD
Published 2016-10-01

Human Ring Chromosomes – New Insights for their Clinical Significance

by Guilherme R.S., Klein E, Hamid A.B., Bhatt S, Volleth M, Polityko A, Kulpanovich A, Dufke A, Albrecht B, Morlot S, Brecevic L, Petersen M.B., Manolakos E, Kosyakova N, Liehr T
Published 2013-06-01

Niemann-Pick Type C disease: characterizing lipid levels in patients with variant lysosomal cholesterol storage[S]

by Carolina Tängemo, Dominik Weber, Susanne Theiss, Eugen Mengel, Heiko Runz
Published 2011-04-01

Hypophosphatasia: A Unique Disorder of Bone Mineralization

by Juan Miguel Villa-Suárez, Cristina García-Fontana, Francisco Andújar-Vera, Sheila González-Salvatierra, Tomás de Haro-Muñoz, Victoria Contreras-Bolívar, Beatriz García-Fontana, Manuel Muñoz-Torres
Published 2021-04-01

Hereditary Prostate Cancer: Genes Related, Target Therapy and Prevention

by Maria Teresa Vietri, Giovanna D’Elia, Gemma Caliendo, Marianna Resse, Amelia Casamassimi, Luana Passariello, Luisa Albanese, Michele Cioffi, Anna Maria Molinari
Published 2021-04-01

Distinguishing between PTEN clinical phenotypes through mutation analysis

by Stephanie Portelli, Lucy Barr, Alex G.C. de Sá, Douglas E.V. Pires, David B. Ascher
Published 2021-01-01

Chondrodysplasias With Multiple Dislocations Caused by Defects in Glycosaminoglycan Synthesis

by Johanne Dubail, Valérie Cormier-Daire, Valérie Cormier-Daire
Published 2021-06-01

Genetic Correlates of Individual Differences in Sleep Behavior of Free-Living Great Tits (Parus major)

by Erica F. Stuber, Christine Baumgartner, Niels J. Dingemanse, Bart Kempenaers, Jakob C. Mueller
Published 2016-03-01

An Exploration of the Molecular Pathogenesis of the Autism Component of PTEN Hamartoma Tumor Syndrome (PHTS): Towards an Understanding of PTEN Variation on PHTS Phenotype Diversity

by Thacker, Stetson Thomas
Published 2021

NOTCH3 Variants and Genotype-Phenotype Features in Chinese CADASIL Patients

by Yacen Hu, Yacen Hu, Qiying Sun, Qiying Sun, Yafang Zhou, Yafang Zhou, Fang Yi, Fang Yi, Haiyun Tang, Lingyan Yao, Lingyan Yao, Yun Tian, Yun Tian, Nina Xie, Nina Xie, Mengchuan Luo, Mengchuan Luo, Zhiqin Wang, Zhiqin Wang, Xinxin Liao, Xinxin Liao, Hongwei Xu, Hongwei Xu, Lin Zhou, Lin Zhou
Published 2021-07-01

Analysis of the relationship between the mutation site of the SLC39A4 gene and acrodermatitis enteropathica by reporting a rare Chinese twin: a case report and review of the litera...

by Wei Zhong, Chao Yang, Lei Zhu, Yu-Qi Huang, Yong-Feng Chen
Published 2020-01-01

Genotype-phenotype correlation and description of two novel mutations in Iranian patients with glycogen storage disease 1b (GSD1b)

by Maryam Eghbali, Maryam Abiri, Saeed Talebi, Zahra Noroozi, Marjan Shakiba, Parastoo Rostami, Hosein Alimadadi, Mehri Najafi, Fatemeh Yazarlou, Ali Rabbani, Mohammad Hossein Modarressi
Published 2020-01-01

CRB1 related retinal degeneration with novel mutation

by Benjamin K. Ghiam, Edward H. Wood, Aristomenis Thanos, Sandeep Randhawa
Published 2020-06-01

Non-deletional alpha thalassaemia: a review

by Ibrahim Kalle Kwaifa, Mei I. Lai, Sabariah Md Noor
Published 2020-06-01

Assessment of Distinct Electrophysiological Parameters in Rectal Biopsies for the Choice of the Best Diagnosis/Prognosis Biomarkers for Cystic Fibrosis

by Iris A. L. Silva, Aires Duarte, Fernando A. L. Marson, Fernando A. L. Marson, Fernando A. L. Marson, Raquel Centeio, Raquel Centeio, Tereza Doušová, Tereza Doušová, Karl Kunzelmann, Margarida D. Amaral
Published 2020-12-01

A comprehensive overview of the cystic fibrosis on the island of São Miguel (Azores, Portugal)

by Joana Rosa, Patrícia Gaspar-Silva, Paula Pacheco, Conceição Silva, Cláudia C. Branco, Barbara S. Vieira, Alexandra Carreiro, Juan Gonçalves, Luisa Mota-Vieira
Published 2020-01-01

Novel heterozygous truncating titin variants affecting the A‐band are associated with cardiomyopathy and myopathy/muscular dystrophy

by Kelly A. Rich, Tia Moscarello, Carly Siskind, Guy Brock, Christopher A. Tan, Matteo Vatta, Thomas L. Winder, Bakri Elsheikh, Leah Vicini, Brianna Tucker, Marilly Palettas, Ray E. Hershberger, John T. Kissel, Ana Morales, Jennifer Roggenbuck
Published 2020-10-01

Estimation of Genetic Effects and Genotype-Phenotype Maps

by Arnaud Le Rouzic, José M. Álvarez-Castro
Published 2008-01-01