Search the collection

11,966 results for Pathogenic+variant

Sort by:

Sort by

Limit results to:

20 per page

11,966 results for Pathogenic+variant

Export to excel

Export record to excel

File type to download

Beta version

Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 1
Books
Tapeworms, lice, and prions : a compendium of unpleasant infections / David I Grove.
Author / Creator:Grove, David I., author.
Publisher:Oxford, United Kingdom : Oxford University Press, 2014.
Edition:First edition.
Call Numbers:G 2015/1265
For use in the Library
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 2
ebooks
The Gale encyclopedia of emerging diseases / [project editor, Deirdre S. Blanchfield].
Publisher:Farmington Hills, Mich. : Gale, a Cengage company, [2018]
Edition:First edition.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 3
ArticlesPeer ReviewedFull Text
The effect of NOTCH3 pathogenic variant position on CADASIL disease severity: NOTCH3 EGFr 1–6 pathogenic variant are associated with a more severe phenotype and lower survival compared with EGFr 7–34...
Author / Creator:Rutten, Julie W. ; Van Eijsden, Bastian J. ; Duering, Marco ; Jouvent, Eric ; Opherk, Christian ; Pantoni, Leonardo ; Federico, Antonio ; Dichgans, Martin ; Markus, Hugh S. ; Chabriat, Hugues ; Lesnik Oberstein, Saskia A. J.
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2019-03, Vol.21 (3), p.676-682
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 4
ArticlesPeer ReviewedFull Text
Correction: The effect of NOTCH3 pathogenic variant position on CADASIL disease severity: NOTCH3 EGFr 1–6 pathogenic variant are associated with a more severe phenotype and lower survival compared wit...
Author / Creator:Rutten, Julie W. ; Van Eijsden, Bastian J. ; Duering, Marco ; Jouvent, Eric ; Opherk, Christian ; Pantoni, Leonardo ; Federico, Antonio ; Dichgans, Martin ; Markus, Hugh S. ; Chabriat, Hugues ; Oberstein, Saskia A. J. Lesnik
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2019-08, Vol.21 (8), p.1895-1895
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 5
ArticlesPeer ReviewedFull Text
Identification of ETFDH gene c. 487 + 2 T > A pathogenic variant and mechanisms for polycystic kidney in neonatal onset MADD
Author / Creator:Zhang, Bijun ; Zhang, Dongyang ; Sun, Feiyue ; Si, Xinxin ; Luan, Meng ; He, Rong
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2025-03, Vol.20 (1), p.121-10, Article 121
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 6
ArticlesPeer ReviewedFull Text
Feasibility of targeted cascade genetic testing in the family members of BRCA1/2 gene pathogenic variant/likely pathogenic variant carriers
Author / Creator:Lee, Jeeyeon ; Ham, Ji Yeon ; Park, Ho Yong ; Jung, Jin Hyang ; Kim, Wan Wook ; Kang, Byeongju ; Chae, Yee Soo ; Lee, Soo Jung ; Lee, In Hee ; Lee, Nan Young
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2022-02, Vol.12 (1), p.1842-1842, Article 1842
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 7
ArticlesPeer ReviewedFull Text
A homozygous FANCM frameshift pathogenic variant causes male infertility
Author / Creator:Yin, Hao ; Ma, Hui ; Hussain, Sajjad ; Zhang, Huan ; Xie, Xuefeng ; Jiang, Long ; Jiang, Xiaohua ; Iqbal, Furhan ; Bukhari, Ihtisham ; Jiang, Hanwei ; Ali, Asim ; Zhong, Liangwen ; Li, Tao ; Fan, Suixing ; Zhang, Beibei ; Gao, Jianing ; Li, Yang ; Nazish, Jabeen ; Khan, Teka ; Khan, Manan ; Zubair, Muhammad ; Hao, Qiaomei ; Fang, Hui ; Huang, Jun ; Huleihel, Mahmoud ; Sha, Jiahao ; Pandita, Tej K. ; Zhang, Yuanwei ; Shi, Qinghua
Publisher:New York: Elsevier Inc
Journal title:Genetics in medicine, 2019-01, Vol.21 (1), p.62-70
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 8
ArticlesPeer ReviewedFull Text
Associations of height, body mass index, and weight gain with breast cancer risk in carriers of a pathogenic variant in BRCA1 or BRCA2: the BRCA1 and BRCA2 Cohort Consortium
Author / Creator:Kast, Karin ; John, Esther M. ; Hopper, John L. ; Andrieu, Nadine ; Noguès, Catherine ; Mouret-Fourme, Emmanuelle ; Lasset, Christine ; Fricker, Jean-Pierre ; Berthet, Pascaline ; Mari, Véronique ; Salle, Lucie ; Schmidt, Marjanka K. ; Ausems, Margreet G. E. M. ; Garcia, Encarnacion B. Gomez ; van de Beek, Irma ; Wevers, Marijke R. ; Evans, D. Gareth ; Tischkowitz, Marc ; Lalloo, Fiona ; Cook, Jackie ; Izatt, Louise ; Tripathi, Vishakha ; Snape, Katie ; Musgrave, Hannah ; Sharif, Saba ; Murray, Jennie ; Colonna, Sarah V. ; Andrulis, Irene L. ; Daly, Mary B. ; Southey, Melissa C. ; de la Hoya, Miguel ; Osorio, Ana ; Foretova, Lenka ; Berkova, Dita ; Gerdes, Anne-Marie ; Olah, Edith ; Jakubowska, Anna ; Singer, Christian F. ; Tan, Yen ; Augustinsson, Annelie ; Rantala, Johanna ; Simard, Jacques ; Schmutzler, Rita K. ; Milne, Roger L. ; Phillips, Kelly-Anne ; Terry, Mary Beth ; Goldgar, David ; van Leeuwen, Flora E. ; Mooij, Thea M. ; Antoniou, Antonis C. ; Easton, Douglas F. ; Rookus, Matti A. ; Engel, Christoph
Publisher:England: BioMed Central Ltd
Journal title:Breast cancer research : BCR, 2023-06, Vol.25 (1), p.72-72, Article 72
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 9
ArticlesPeer ReviewedFull Text
The RRAS2 pathogenic variant (c.67G>T; p. Gly23Cys) produces Noonan syndrome with embryonal rhabdomyosarcoma
Author / Creator:Zeng, Lan ; Wang, Jin ; Zhu, Hui ; Huang, Yu ; Deng, Yi ; Wei, Ping ; Nie, Jing ; Tang, Bei ; Chen, Ai ; Zhu, Shuyao
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2024-01, Vol.12 (1), p.e2313-n/a
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 10
ArticlesPeer ReviewedFull Text
Clinical Features of Multiple Endocrine Neoplasia Type 4: Novel Pathogenic Variant and Review of Published Cases
Author / Creator:Frederiksen, Anja ; Rossing, Maria ; Hermann, Pernille ; Ejersted, Charlotte ; Thakker, Rajesh V ; Frost, Morten
Publisher:Washington, DC: Endocrine Society
Journal title:The journal of clinical endocrinology and metabolism, 2019-09, Vol.104 (9), p.3637-3646
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 11
ArticlesPeer ReviewedFull Text
The phospholamban p.(Arg14del) pathogenic variant leads to cardiomyopathy with heart failure and is unreponsive to standard heart failure therapy
Author / Creator:Eijgenraam, Tim R ; Boukens, Bastiaan J ; Boogerd, Cornelis J ; Schouten, E Marloes ; van de Kolk, Cees W A ; Stege, Nienke M ; Te Rijdt, Wouter P ; Hoorntje, Edgar T ; van der Zwaag, Paul A ; van Rooij, Eva ; van Tintelen, J Peter ; van den Berg, Maarten P ; van der Meer, Peter ; van der Velden, Jolanda ; Silljé, Herman H W ; de Boer, Rudolf A
Publisher:England: Nature Publishing Group UK
Journal title:Scientific reports, 2020-06, Vol.10 (1), p.9819-9819
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 12
ArticlesPeer ReviewedFull Text
L1077P CFTR pathogenic variant function rescue by Elexacaftor–Tezacaftor–Ivacaftor in cystic fibrosis patient-derived air–liquid interface (ALI) cultures and organoids: in vitro guided personalized th...
Author / Creator:Lo Cicero, Stefania ; Castelli, Germana ; Blaconà, Giovanna ; Bruno, Sabina Maria ; Sette, Giovanni ; Pigliucci, Riccardo ; Villella, Valeria Rachela ; Esposito, Speranza ; Zollo, Immacolata ; Spadaro, Francesca ; Maria, Ruggero De ; Biffoni, Mauro ; Cimino, Giuseppe ; Amato, Felice ; Lucarelli, Marco ; Eramo, Adriana
Publisher:London: BioMed Central Ltd
Journal title:Respiratory research, 2023-09, Vol.24 (1), p.1-217, Article 217
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 13
ArticlesPeer ReviewedFull Text
S246 Differences in Lynch Syndrome Colonoscopy Surveillance by Pathogenic Variant
Author / Creator:Gibson, Elena ; Li, Haojia ; Staub, Judith ; Keener, Megan ; Kanth, Priyanka
Publisher:Philadelphia, PA: Wolters Kluwer
Journal title:The American journal of gastroenterology, 2022-10, Vol.117 (10S), p.e173-e173
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 14
ArticlesPeer ReviewedFull Text
Role of MDH2 pathogenic variant in pheochromocytoma and paraganglioma patients
Author / Creator:Calsina, Bruna ; Currás-Freixes, Maria ; Buffet, Alexandre ; Pons, Tirso ; Contreras, Laura ; Letón, Rocío ; Comino-Méndez, Iñaki ; Remacha, Laura ; Calatayud, María ; Obispo, Berta ; Martin, Antoine ; Cohen, Regis ; Richter, Susan ; Balmaña, Judith ; Korpershoek, Esther ; Rapizzi, Elena ; Deutschbein, Timo ; Vroonen, Laurent ; Favier, Judith ; de Krijger, Ronald R. ; Fassnacht, Martin ; Beuschlein, Felix ; Timmers, Henri J. ; Eisenhofer, Graeme ; Mannelli, Massimo ; Pacak, Karel ; Satrústegui, Jorgina ; Rodríguez-Antona, Cristina ; Amar, Laurence ; Cascón, Alberto ; Dölker, Nicole ; Gimenez-Roqueplo, Anne-Paule ; Robledo, Mercedes
Publisher:New York: Elsevier Inc
Journal title:Genetics in medicine, 2018-12, Vol.20 (12), p.1652-1662
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 15
ArticlesPeer ReviewedFull Text
De Novo DNM1L Pathogenic Variant Associated with Lethal Encephalocardiomyopathy—Case Report and Literature Review
Author / Creator:Magistrati, Martina ; Zupin, Luisa ; Lamantea, Eleonora ; Baruffini, Enrico ; Ghezzi, Daniele ; Legati, Andrea ; Celsi, Fulvio ; Murru, Flora Maria ; Capaci, Valeria ; Pinamonti, Maurizio ; Bussani, Rossana ; Carrozzi, Marco ; Dallabona, Cristina ; Zeviani, Massimo ; Bonati, Maria Teresa
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2025-01, Vol.26 (2), p.846
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 16
ArticlesPeer ReviewedFull Text
Wilms tumour resulting from paternal transmission of a TRIM28 pathogenic variant—A first report
Author / Creator:Whitworth, James ; Armstrong, Ruth ; Maher, Eamonn R.
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2024-03, Vol.32 (3), p.361-364
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 17
ArticlesPeer ReviewedFull Text
Hypomorphic pathogenic variant in SFTPB leads to adult pulmonary fibrosis
Author / Creator:Desroziers, Tifenn ; Prévot, Grégoire ; Coulomb, Aurore ; Nau, Valérie ; Dastot-Le Moal, Florence ; Duquesnoy, Philippe ; Héry, Mélanie ; Le Borgne, Aurélie ; Amselem, Serge ; Legendre, Marie ; Nathan, Nadia
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2023-09, Vol.31 (9), p.1083-1087
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 18
ArticlesPeer ReviewedFull Text
Cryo-EM unveils kinesin KIF1A’s processivity mechanism and the impact of its pathogenic variant P305L
Author / Creator:Benoit, Matthieu P. M. H. ; Rao, Lu ; Asenjo, Ana B. ; Gennerich, Arne ; Sosa, Hernando
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2024-07, Vol.15 (1), p.5530-18, Article 5530
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 19
ArticlesPeer ReviewedFull Text
Phenotypic presentation of MEN1 c.758delC (p.Ser253Cysfs28) pathogenic variant: a case report
Author / Creator:Mancini, Antonio ; Concolino, Paola ; Vergani, Edoardo ; Oliva, Alessandro ; Macis, Giuseppe ; Traini, Emanuela ; Rossi, Esther Diana
Publisher:England: Oxford University Press
Journal title:Oxford Medical Case Reports, 2024-09, Vol.2024 (9), p.omae111
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 20
ArticlesPeer ReviewedFull Text
Coenzyme Q10 supplementation in adult-onset focal segmental glomerulosclerosis caused by the Chinese common pathogenic variant c.737G > A (p.Ser246Asn) in the COQ8B gene
Author / Creator:Jin, Shi ; Shi, Yiqin ; Lin, Pan ; Liu, Hong ; Xu, Xialian ; Dai, Xuantong ; Jiang, Gengru ; Ding, Xiaoqiang ; Lin, Fujun
Publisher:England: Taylor & Francis
Journal title:Renal failure, 2025-12, Vol.47 (1), p.2501204
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.

Showing 1 to 20 of 11,966 results

Export record to excel

Export this record

Export record to excel

Tapeworms, lice, and prions : a compendium of unpleasant infections / David I Grove.

Export this record

Export record to excel

The Gale encyclopedia of emerging diseases / [project editor, Deirdre S. Blanchfield].

Export this record

Export record to excel

The effect of NOTCH3 pathogenic variant position on CADASIL disease severity: NOTCH3 EGFr 1–6 pathogenic variant are associated with a more severe phenotype and lower survival compared with EGFr 7–34...

Export this record

Export record to excel

Correction: The effect of NOTCH3 pathogenic variant position on CADASIL disease severity: NOTCH3 EGFr 1–6 pathogenic variant are associated with a more severe phenotype and lower survival compared wit...

Export this record

Export record to excel

Identification of ETFDH gene c. 487 + 2 T > A pathogenic variant and mechanisms for polycystic kidney in neonatal onset MADD

Export this record

Export record to excel

Feasibility of targeted cascade genetic testing in the family members of BRCA1/2 gene pathogenic variant/likely pathogenic variant carriers

Export this record

Export record to excel

A homozygous FANCM frameshift pathogenic variant causes male infertility

Export this record

Export record to excel

Associations of height, body mass index, and weight gain with breast cancer risk in carriers of a pathogenic variant in BRCA1 or BRCA2: the BRCA1 and BRCA2 Cohort Consortium

Export this record

Export record to excel

The RRAS2 pathogenic variant (c.67G>T; p. Gly23Cys) produces Noonan syndrome with embryonal rhabdomyosarcoma

Export this record

Export record to excel

Clinical Features of Multiple Endocrine Neoplasia Type 4: Novel Pathogenic Variant and Review of Published Cases

Export this record

Export record to excel

The phospholamban p.(Arg14del) pathogenic variant leads to cardiomyopathy with heart failure and is unreponsive to standard heart failure therapy

Export this record

Export record to excel

L1077P CFTR pathogenic variant function rescue by Elexacaftor–Tezacaftor–Ivacaftor in cystic fibrosis patient-derived air–liquid interface (ALI) cultures and organoids: in vitro guided personalized th...

Export this record

Export record to excel

S246 Differences in Lynch Syndrome Colonoscopy Surveillance by Pathogenic Variant

Export this record

Export record to excel

Role of MDH2 pathogenic variant in pheochromocytoma and paraganglioma patients

Export this record

Export record to excel

De Novo DNM1L Pathogenic Variant Associated with Lethal Encephalocardiomyopathy—Case Report and Literature Review

Export this record

Export record to excel

Wilms tumour resulting from paternal transmission of a TRIM28 pathogenic variant—A first report

Export this record

Export record to excel

Hypomorphic pathogenic variant in SFTPB leads to adult pulmonary fibrosis

Export this record

Export record to excel

Cryo-EM unveils kinesin KIF1A’s processivity mechanism and the impact of its pathogenic variant P305L

Export this record

Export record to excel

Phenotypic presentation of MEN1 c.758delC (p.Ser253Cysfs28) pathogenic variant: a case report

Export this record

Export record to excel

Coenzyme Q10 supplementation in adult-onset focal segmental glomerulosclerosis caused by the Chinese common pathogenic variant c.737G > A (p.Ser246Asn) in the COQ8B gene

Refine your search