Results 201 to 210 of about 3,055,534 (337)

Genetic counseling after implementation of statewide cystic fibrosis newborn screening: Two years' experience in one medical center [PDF]

, 2001
Patricia G. Wheeler, Rosemarie Smith, Henry L. Dorkin, Richard B. Parad, Anne Marie Comeau, Diana W. Bianchi   +5 more
openalex   +1 more source

The past, present and future of service delivery in genetic counseling: Keeping up in the era of precision medicine

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2018
Katie A. Stoll, S. Kubendran, Stephanie A Cohen   +2 more
semanticscholar   +1 more source

Nationwide Characterization of MFN2‐Related CMT in 176 Japanese Patients: Clinical and Genetic Insights

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Mitofusin 2 (MFN2) is a major causative gene for axonal Charcot – Marie – Tooth disease type 2A (CMT2A), with a wide phenotypic spectrum. Comprehensive large ‐ scale genotype – phenotype association studies are essential for understanding disease pathogenesis and improved clinical management.
Masahiro Ando, Yujiro Higuchi, Jun‐Hui Yuan, Akiko Yoshimura, Chikashi Yano, Takahiro Hobara, Fumikazu Kojima, Yu Hiramatsu, Satoshi Nozuma, Tomonori Nakamura, Yusuke Sakiyama, Jun Mitsui, Shoji Tsuji, Hiroshi Takashima   +13 more
wiley   +1 more source

Research methods in genetic counseling: Statistical approaches and resources. [PDF]

J Genet Couns
Helm BM, Wetherill L.
europepmc   +1 more source

Genetic counselling in familial Mediterranean fever: has the time come? [PDF]

, 2001
Eldad Ben‐Chetrit
openalex   +1 more source

Scoliosis Surgery in a Patient With Advanced Friedreich's Ataxia—It Is Not Too Late

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Friedreich's ataxia is a multisystem disorder with scoliosis being the most common non‐neurological manifestation. While scoliosis surgery is typically performed in adolescent, ambulatory patients, few data exist on surgical outcomes in patients with advanced disease.
Kathrin Reetz, Stella A. Lischewski, Jörg B. Schulz, Maximilian Praster, Miguel Pishnamaz, on behalf of the FACROSS study group, Imis Dogan, Sandro Romanzetti, Ravi Dadsena, Kerstin Konrad, Thomas Clavel, Vera Jankowski, Joachim Jankowski, Oliver Pabst, Nikolaus Marx, Julia Moellmann, Malte Jacobsen, Katharina Marx‐Schütt, Juergen Dukart, Simon Eickhoff, Ralf‐Dieter Hilgers   +20 more
wiley   +1 more source

Enhancing rigor and justice in genetic counseling research with reflexivity and positionality. [PDF]

J Genet Couns
Zayhowski K, Borle K, Channaoui N.
europepmc   +1 more source

Qualitative Cancer Genetic Counseling Research, Part II: Findings from a Exploratory Ethnographic Study in a Cancer Clinic [PDF]

, 2001
June A. Peters, Carol L. McAllister, Wendy S. Rubinstein   +2 more
openalex   +1 more source

GENETICS IN ENDOCRINOLOGY: Genetic counseling for congenital hypogonadotropic hypogonadism and Kallmann syndrome: new challenges in the era of oligogenism and next-generation sequencing.

European Journal of Endocrinology, 2018
L. Maione, A. Dwyer, B. Francou, A. Guiochon‐Mantel, N. Binart, J. Bouligand, Jacques Young   +6 more
semanticscholar   +1 more source

Decreased Serum 5‐HT: Clinical Correlates and Regulatory Role in NMJ of MG

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Although 5‐Hydroxytryptamine (5‐HT) indirectly stimulates muscle contraction and participates in regulating Acetylcholine receptor (AChR) cluster homeostasis in cellular, animal, and clinical studies, evidence regarding its potential to modulate muscle contraction in myasthenia gravis (MG) remains limited.
Xinru Shen, Jing Zhang, Xinyue Zhou, Xiaoxiao Yu, Haodong Shang, Shufan Chen, Lulu Zhen, Jinru Wu, Guanlian Hu, Xiaoyan Zhu, Zhan Sun, Yiren Wang, Jiahui Wang, Jie Lv, Xue Zhao, Yingna Zhang, Wei Guo, Ying Peng, Feng Gao   +18 more
wiley   +1 more source