Search the collection

36 results for Ghayoor+Karimiani,+Ehsan

Sort by:

Sort by

Limit results to:

20 per page

36 results for Ghayoor+Karimiani,+Ehsan

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
ArticlesPeer ReviewedFull Text
ALG1-congenital disorder of glycosylation: report of clinical and genetic features of three new cases and review of literature
Author / Creator:Khaghani, Faeze ; Pourbadakhshan, Nafiseh ; Ghayoor Karimiani, Ehsan ; Ashrafzadeh, Farah ; Eshraghi, Peyman
Publisher:Cairo: Springer
Journal title:The Egyptian journal of medical human genetics, 2025-12, Vol.26 (1), p.89
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 2
ArticlesPeer ReviewedFull Text
Hereditary thrombophilia genetic variants in recurrent pregnancy loss
Author / Creator:Ahangari, Najmeh ; Doosti, Mohammad ; Mousavifar, Nezhat ; Attaran, Matin ; Shahrokhzadeh, Sima ; Memarpour, Sara ; Ghayoor Karimiani, Ehsan
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Archives of gynecology and obstetrics, 2019-09, Vol.300 (3), p.777-782
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 3
ArticlesPeer ReviewedFull Text
Autosomal recessive polycystic kidney disease: late-onset renal enlargement and proteinuria with rare PKHD1 mutation-a case report
Author / Creator:Zeraati, Tina ; Abbaszadegan, Mohammad Reza ; Azarfar, Anoush ; Ghayoor Karimiani, Ehsan ; Lotfi, Malihe ; Zeraati, Abbas Ali
Publisher:Cairo: Springer
Journal title:The Egyptian journal of medical human genetics, 2024-12, Vol.25 (1), p.135
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
Limb-Girdle Muscular Dystrophy Type 2B (LGMD2B) Caused by Pathogenic Splice and Missense Variants of DYSF Gene Among Iranians with Muscular Dystrophy
Author / Creator:Arab, Fatemeh ; Ahangari, Najmeh ; Malek, Hadis ; Doosti, Mohammad ; Najarzadeh Torbati, Paria ; Ghayoor Karimiani, Ehsan
Publisher:India: Wolters Kluwer - Medknow
Journal title:Advanced biomedical research, 2023-01, Vol.12 (1), p.150-150
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
Chloride Channel Mutations Leading to Congenital Myotonia
Author / Creator:Nik, Amir ; Ahangari, Najmeh ; Najarzadeh Torbati, Paria ; Boostani, Reza ; Ghayoor Karimiani, Ehsan
Publisher:United States: Springer Nature B.V
Journal title:Cureus, 2022-12, Vol.14 (12), p.e32649-e32649
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
PI4K2A deficiency causes innate error in intracellular trafficking with developmental and epileptic‐dyskinetic encephalopathy
Author / Creator:Dafsari, Hormos Salimi ; Pemberton, Joshua G. ; Ferrer, Elizabeth A. ; Yammine, Tony ; Farra, Chantal ; Mohammadi, Mohammad Hasan ; Ghayoor Karimiani, Ehsan ; Hashemi, Narges ; Souaid, Mirna ; Sabbagh, Sandra ; Najarzadeh Torbati, Paria ; Khan, Suliman ; Roze, Emmanuel ; Moreno‐De‐Luca, Andres ; Bertoli‐Avella, Aida M. ; Houlden, Henry ; Balla, Tamas ; Maroofian, Reza
Publisher:United States: John Wiley & Sons, Inc
Journal title:Annals of clinical and translational neurology, 2022-09, Vol.9 (9), p.1345-1358
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
Normal very long-chain fatty acids level in a patient with peroxisome biogenesis disorders: a case report
Author / Creator:Shirvan, Bita Barazandeh ; Ahangari, Najmeh ; Rezaie, Razie ; Layegh, Parvaneh ; Karimiani, Ehsan Ghayoor ; Hashemi, Narges ; Toosi, Mehran Beiraghi
Publisher:England: BioMed Central Ltd
Journal title:BMC pediatrics, 2024-11, Vol.24 (1), p.778-5, Article 778
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
Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia
Author / Creator:Wagner, Matias ; Osborn, Daniel P. S. ; Gehweiler, Ina ; Nagel, Maike ; Ulmer, Ulrike ; Bakhtiari, Somayeh ; Amouri, Rim ; Boostani, Reza ; Hentati, Faycal ; Hockley, Maryam M. ; Hölbling, Benedikt ; Schwarzmayr, Thomas ; Karimiani, Ehsan Ghayoor ; Kernstock, Christoph ; Maroofian, Reza ; Müller-Felber, Wolfgang ; Ozkan, Ege ; Padilla-Lopez, Sergio ; Reich, Selina ; Reichbauer, Jennifer ; Darvish, Hossein ; Shahmohammadibeni, Neda ; Tafakhori, Abbas ; Vill, Katharina ; Zuchner, Stephan ; Kruer, Michael C. ; Winkelmann, Juliane ; Jamshidi, Yalda ; Schüle, Rebecca
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2019-10, Vol.10 (1), p.4790-13, Article 4790
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
SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects
Author / Creator:Dubail, Johanne ; Huber, Céline ; Chantepie, Sandrine ; Sonntag, Stephan ; Tüysüz, Beyhan ; Mihci, Ercan ; Gordon, Christopher T. ; Steichen-Gersdorf, Elisabeth ; Amiel, Jeanne ; Nur, Banu ; Stolte-Dijkstra, Irene ; van Eerde, Albertien M. ; van Gassen, Koen L. ; Breugem, Corstiaan C. ; Stegmann, Alexander ; Lekszas, Caroline ; Maroofian, Reza ; Karimiani, Ehsan Ghayoor ; Bruneel, Arnaud ; Seta, Nathalie ; Munnich, Arnold ; Papy-Garcia, Dulce ; De La Dure-Molla, Muriel ; Cormier-Daire, Valérie
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2018-08, Vol.9 (1), p.3087-15, Article 3087
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
Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition
Author / Creator:Ghosh, Shereen G. ; Lee, Sangmoon ; Fabunan, Rudy ; Chai, Guoliang ; Zaki, Maha S. ; Abdel-Salam, Ghada ; Sultan, Tipu ; Ben-Omran, Tawfeg ; Alvi, Javeria Raza ; McEvoy-Venneri, Jennifer ; Stanley, Valentina ; Patel, Aakash ; Ross, Danica ; Ding, Jeffrey ; Jain, Mohit ; Pan, Daqiang ; Lübbert, Philipp ; Kammerer, Bernd ; Wiedemann, Nils ; Verhoeven-Duif, Nanda M. ; Jans, Judith J. ; Murphy, David ; Toosi, Mehran Beiraghi ; Ashrafzadeh, Farah ; Imannezhad, Shima ; Karimiani, Ehsan Ghayoor ; Ibrahim, Khalid ; Waters, Elizabeth R. ; Maroofian, Reza ; Gleeson, Joseph G.
Publisher:New York: Nature Publishing Group US
Journal title:Genetics in medicine, 2021-03, Vol.23 (3), p.524-533
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
Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome
Author / Creator:Rad, Aboulfazl ; Najafi, Maryam ; Suri, Fatemeh ; Abedini, Soheila ; Loum, Stephen ; Karimiani, Ehsan Ghayoor ; Daftarian, Narsis ; Murphy, David ; Doosti, Mohammad ; Moghaddasi, Afrooz ; Ahmadieh, Hamid ; Sabbaghi, Hamideh ; Rajati, Mohsen ; Hashemi, Narges ; Vona, Barbara ; Schmidts, Miriam
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2022-03, Vol.17 (1), p.97-97, Article 97
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
Biallelic variants in KIF14 cause intellectual disability with microcephaly
Author / Creator:Makrythanasis, Periklis ; Maroofian, Reza ; Stray-Pedersen, Asbjørg ; Musaev, Damir ; Zaki, Maha S. ; Mahmoud, Iman G. ; Selim, Laila ; Elbadawy, Amera ; Jhangiani, Shalini N. ; Coban Akdemir, Zeynep H. ; Gambin, Tomasz ; Sorte, Hanne S. ; Heiberg, Arvid ; McEvoy-Venneri, Jennifer ; James, Kiely N. ; Stanley, Valentina ; Belandres, Denice ; Guipponi, Michel ; Santoni, Federico A. ; Ahangari, Najmeh ; Tara, Fatemeh ; Doosti, Mohammad ; Iwaszkiewicz, Justyna ; Zoete, Vincent ; Backe, Paul Hoff ; Hamamy, Hanan ; Gleeson, Joseph G. ; Lupski, James R. ; Karimiani, Ehsan Ghayoor ; Antonarakis, Stylianos E.
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2018-03, Vol.26 (3), p.330-339
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
Hyper IgE Syndromes: Understanding, Management, and Future Perspectives: A Narrative Review
Author / Creator:Salehi, Mohammad ; Neshati, Zeinab ; Ahanchian, Hamid ; Tafrishi, Rana ; Pasdar, Alireza ; Safi, Mojtaba ; Karimiani, Ehsan Ghayoor
Publisher:United States: John Wiley & Sons, Inc
Journal title:Health science reports, 2025-03, Vol.8 (3), p.e70497-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 14
ArticlesPeer ReviewedFull Text
Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis
Author / Creator:Najafi, Maryam ; Kordi-Tamandani, Dor Mohammad ; Behjati, Farkhondeh ; Sadeghi-Bojd, Simin ; Bakey, Zeineb ; Karimiani, Ehsan Ghayoor ; Schüle, Isabel ; Azarfar, Anoush ; Schmidts, Miriam
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2019-02, Vol.14 (1), p.41-41, Article 41
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
Genetic Insights from Consanguineous Cardiomyopathy Families
Author / Creator:Maurer, Constance ; Boleti, Olga ; Najarzadeh Torbati, Paria ; Norouzi, Farzaneh ; Fowler, Anna Nicole Rebekah ; Minaee, Shima ; Salih, Khalid Hama ; Taherpour, Mehdi ; Birjandi, Hassan ; Alizadeh, Behzad ; Salih, Aso Faeq ; Bijari, Moniba ; Houlden, Henry ; Pittman, Alan Michael ; Maroofian, Reza ; Almashham, Yahya H. ; Karimiani, Ehsan Ghayoor ; Kaski, Juan Pablo ; Faqeih, Eissa Ali ; Vakilian, Farveh ; Jamshidi, Yalda
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2023-01, Vol.14 (1), p.182
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
Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome
Author / Creator:Koparir, Asuman ; Lekszas, Caroline ; Keseroglu, Kemal ; Rose, Thalia ; Rappl, Lena ; Rad, Aboulfazl ; Maroofian, Reza ; Narendran, Nakul ; Hasanzadeh, Atefeh ; Karimiani, Ehsan Ghayoor ; Boschann, Felix ; Kornak, Uwe ; Klopocki, Eva ; Özbudak, Ertuğrul M. ; Vona, Barbara ; Haaf, Thomas ; Liedtke, Daniel
Publisher:England: BioMed Central
Journal title:Human genomics, 2024-03, Vol.18 (1), p.23-13, Article 23
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
Genotype–phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders
Author / Creator:Borgia, Paola ; Baldassari, Simona ; Pedemonte, Nicoletta ; Alkhunaizi, Ebba ; D’Onofrio, Gianluca ; Tortora, Domenico ; Calì, Elisa ; Scudieri, Paolo ; Balagura, Ganna ; Musante, Ilaria ; Diana, Maria Cristina ; Pedemonte, Marina ; Vari, Maria Stella ; Iacomino, Michele ; Riva, Antonella ; Chimenz, Roberto ; Mangano, Giuseppe D. ; Mohammadi, Mohammad Hasan ; Toosi, Mehran Beiraghi ; Ashrafzadeh, Farah ; Imannezhad, Shima ; Karimiani, Ehsan Ghayoor ; Accogli, Andrea ; Schiaffino, Maria Cristina ; Maghnie, Mohamad ; Soler, Miguel Angel ; Echiverri, Karl ; Abrams, Charles K. ; Striano, Pasquale ; Fortuna, Sara ; Maroofian, Reza ; Houlden, Henry ; Zara, Federico ; Fiorillo, Chiara ; Salpietro, Vincenzo
Publisher:London: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2022-07, Vol.17 (1), p.1-286, Article 286
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
Expanding the Clinical Phenotype of PLECTIN-Related Plectinopathies
Author / Creator:Torbati, Paria Najarzadeh ; Doosti, Mohammad ; Sarraf, Payam ; Boostani, Reza ; Ahangari, Najmeh ; Toosi, Mehran Beiraghi ; Tafakhori, Abbas ; Babaei, Meisam ; Abedini, Soheila ; Malek, Hadis ; Maskani, Samaneh ; Safi, Mojtaba ; Karimiani, Ehsan Ghayoor
Publisher:Iran: Tehran University of Medical Sciences
Journal title:Iranian journal of public health, 2024-05, Vol.53 (5), p.1184-1191
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
ECEL1 novel mutation in arthrogryposis type 5D: A molecular dynamic simulation study
Author / Creator:Ahangari, Najmeh ; Gholampour‐Faroji, Nazanin ; Doosti, Mohammad ; Ghayour Mobarhan, Majid ; Shahrokhzadeh, Sima ; Karimiani, Ehsan Ghayoor ; Hasani‐sabzevar, Bahareh ; Torbati, Paria Najarzadeh ; Haddad‐Mashadrizeh, Aliakbar
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2023-06, Vol.11 (6), p.e2153-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 20
ArticlesPeer ReviewedFull Text
Expanding the clinical phenotype of IARS2-related mitochondrial disease
Author / Creator:Vona, Barbara ; Maroofian, Reza ; Bellacchio, Emanuele ; Najafi, Maryam ; Thompson, Kyle ; Alahmad, Ahmad ; He, Langping ; Ahangari, Najmeh ; Rad, Abolfazl ; Shahrokhzadeh, Sima ; Bahena, Paulina ; Mittag, Falk ; Traub, Frank ; Movaffagh, Jebrail ; Amiri, Nafise ; Doosti, Mohammad ; Boostani, Reza ; Shirzadeh, Ebrahim ; Haaf, Thomas ; Diodato, Daria ; Schmidts, Miriam ; Taylor, Robert W. ; Karimiani, Ehsan Ghayoor
Publisher:England: BioMed Central Ltd
Journal title:BMC medical genetics, 2018-11, Vol.19 (1), p.196-16, Article 196
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 36 results

Export record to excel

Export this record

Export record to excel

ALG1-congenital disorder of glycosylation: report of clinical and genetic features of three new cases and review of literature

Export this record

Export record to excel

Hereditary thrombophilia genetic variants in recurrent pregnancy loss

Export this record

Export record to excel

Autosomal recessive polycystic kidney disease: late-onset renal enlargement and proteinuria with rare PKHD1 mutation-a case report

Export this record

Export record to excel

Limb-Girdle Muscular Dystrophy Type 2B (LGMD2B) Caused by Pathogenic Splice and Missense Variants of DYSF Gene Among Iranians with Muscular Dystrophy

Export this record

Export record to excel

Chloride Channel Mutations Leading to Congenital Myotonia

Export this record

Export record to excel

PI4K2A deficiency causes innate error in intracellular trafficking with developmental and epileptic‐dyskinetic encephalopathy

Export this record

Export record to excel

Normal very long-chain fatty acids level in a patient with peroxisome biogenesis disorders: a case report

Export this record

Export record to excel

Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia

Export this record

Export record to excel

SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects

Export this record

Export record to excel

Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition

Export this record

Export record to excel

Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome

Export this record

Export record to excel

Biallelic variants in KIF14 cause intellectual disability with microcephaly

Export this record

Export record to excel

Hyper IgE Syndromes: Understanding, Management, and Future Perspectives: A Narrative Review

Export this record

Export record to excel

Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis

Export this record

Export record to excel

Genetic Insights from Consanguineous Cardiomyopathy Families

Export this record

Export record to excel

Zebrafish as a model to investigate a biallelic gain-of-function variant in MSGN1, associated with a novel skeletal dysplasia syndrome

Export this record

Export record to excel

Genotype–phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders

Export this record

Export record to excel

Expanding the Clinical Phenotype of PLECTIN-Related Plectinopathies

Export this record

Export record to excel

ECEL1 novel mutation in arthrogryposis type 5D: A molecular dynamic simulation study

Export this record

Export record to excel

Expanding the clinical phenotype of IARS2-related mitochondrial disease

Refine your search