Results 131 to 140 of about 16,014 (252)

Molecular genetics of the immotile short tail sperm defect [PDF]

, 2012
v2009okDiss.
Sironen, Anu
core  

An effective combination of whole-exome sequencing and runs of homozygosity for the diagnosis of primary ciliary dyskinesia in consanguineous families [PDF]

, 2017
Ting Guo, Zhiping Tan, Hua-Mei Chen, Zheng Dong-yuan, Lv Liu, Xingang Huang, Ping Chen, Hong Luo, Yifeng Yang   +8 more
openalex   +1 more source

Fertility care among people with primary ciliary dyskinesia [PDF]

, 2023
Leonie D Schreck, Myrofora Goutaki, Philippa Jörger, Katie Dexter, Michele Manion, Sophie Christin‐Maître, Bernard Maître, Claudia E. Kuehni, Eva S.L. Pedersen, Eva SL Pedersen   +9 more
openalex   +1 more source

Hydrocephalus and diffuse choroid plexus hyperplasia in primary ciliary dyskinesia-related MCIDAS mutation [PDF]

, 2020
Evie Robson, Luke Dixon, Liam Causon, William Dawes, Massimo Benenati, Mahmoud R. Fassad, Robert A. Hirst, Priti Kenia, Eduardo F Moya, Mitali Patel, D. Peckham, Andrew Rutman, Hannah M. Mitchison, Kshitij Mankad, Christopher O’Callaghan   +14 more
openalex   +1 more source

Primary Ciliary Dyskinesia (PCD) [PDF]

American Journal of Respiratory and Critical Care Medicine, 2018
Adam, Shapiro, Stephanie, Davis, Michele, Manion, Kathryn, Briones   +3 more
openaire   +2 more sources

IJCM_83A: Primary Ciliary Dyskinesia in a child

Indian Journal of Community Medicine
Background: PCD is rare genetic disorder with incidence of 1:10,000. We present a 10-year-boy who came with recurrent respiratory-infections with Dextrocardia and bilateral Bronchiectasis for interesting clinical presentation.
J Vasundhara, Kamalakshi Bhat
doaj   +1 more source

A Japanese Case of Primary Ciliary Dyskinesia with <i>DNAH5</i> Mutations

, 2019
Mami Orimo, Mitsuko Kondo, Kiyoshi Takeyama, Kazuhiro Abe, Azusa Miyoshi, N. Honda, asuka ichikawa, Kazuhiko Takeuchi, Etsuko Tagaya   +8 more
openalex   +2 more sources

Clinical Features and Associated Likelihood of Primary Ciliary Dyskinesia in Children and Adolescents

, 2016
Margaret W. Leigh, Thomas W. Ferkol, Stephanie D. Davis, Hye Seung Lee, Margaret Rosenfeld, Sharon Dell, Scott D. Sagel, Carlos Milla, Kenneth N. Olivier, Kelli M. Sullivan, Maimoona A. Zariwala, Jessica E. Pittman, Adam J. Shapiro, Johnny L. Carson, Jeffrey P. Krischer, Milan J. Hazucha, Michael R. Knowles   +16 more
openalex   +2 more sources

An Under-Recognized Disease: A Rare Case of Idiopathic CD4 Lymphopenia Mislabeled as Primary Ciliary Dyskinesia [PDF]

, 2022
Fatimah Mousa Bukhamseen, Abdullah Al-Shamrani   +1 more
openalex   +1 more source

Patients' research priorities and participation in primary ciliary dyskinesia research. [PDF]

BMJ Open Respir Res
Lam YT, Behan L, Dexter K, Dixon L, Kuehni CE, Schreck LD, Lucas JS, Goutaki M.   +7 more
europepmc   +2 more sources