E-LIB Suche - Ergebnisse für: Aryani, Omid

1

Identification of novel mutations among Iranian NPC1 patien..:

Abtahi, Rezvan ; Karimzadeh, Parvaneh ; Aryani, Omid...
Hereditas. 159 (2022) 1 - p. , 2022

Link: https://doi.org/10.1186/..

2

P. Ala278Val mutation might cause a pathogenic defect in HE..:

Rahmani, Zahra ; Banisadr, Arsham ; Ghodsinezhad, Vadieh..
Metabolic Brain Disease. 37 (2022) 8 - p. 2669-2675 , 2022

Link: https://doi.org/10.1007/..

3

A Case of MPAN with "Eye of the Tiger Sign," Mimicking PKAN:

Dehghan Manshadi, Masoumeh ; Rohani, Mohammd ; Rezaei, Ali.
Movement Disorders Clinical Practice. 9 (2022) 5 - p. 693-695 , 2022

Link: https://doi.org/10.1002/..

4

Newborn screening programs for spinal muscular atrophy worl..:

Dangouloff, Tamara ; Vrščaj, Eva ; Servais, Laurent...
Neuromuscular Disorders. 31 (2021) 6 - p. 574-582 , 2021

Link: https://doi.org/10.1016/..

5

Novel bi-allelic variants expand the SPTBN4-related genetic..:

Buelow, Markus ; Süßmuth, David ; Smith, Laurie D....
European Journal of Human Genetics. 29 (2021) 7 - p. 1121-1128 , 2021

Link: https://doi.org/10.1038/..

6

A novel homozygous variation in the PANK2 gene in two Persi..:

Zaribafian, Maryam ; Moradian Kokhedan, Karim ; Alizadeh, Elham...
Neurology International. 11 (2019) 1 - p. , 2019

Link: https://doi.org/10.4081/..

7

Late‐onset pompe disease in Iran: A clinical and genetic re..:

Nazari, Ferdos ; Sinaei, Farnaz ; Nilipour, Yalda...
Muscle & Nerve. 55 (2017) 6 - p. 835-840 , 2017

Link: https://doi.org/10.1002/..

8

Four novel ARSA gene mutations with pathogenic impacts on m..:

Dehghan Manshadi, Masoumeh ; Kamalidehghan, Behnam ; Aryani, Omid...
Therapeutics and Clinical Risk Management. 13 (2017) - p. 725-731 , 2017

Link: https://doi.org/10.2147/..

9

Expanding the clinical and mutational spectrum of the Ehler..:

Van Damme, Tim ; Colige, Alain ; Syx, Delfien...
Genetics in Medicine. 18 (2016) 9 - p. 882-891 , 2016

Link: https://doi.org/10.1038/..

10

Identification of a new mutation in an Iranian family with ..:

Akbaroghli, Susan ; Balali, Maryam ; Kamalidehghan, Behnam...
Therapeutics and Clinical Risk Management. 13 (2016) - p. 15-19 , 2016

Link: https://doi.org/10.2147/..

11

Oral Therapy in a Diabetic Patient With History of Infantil..:

Moravej, Hossein ; Karamizadeh, Zohreh ; Aryani, Omid
Iranian Journal of Pediatrics. 25 (2015) 4 - p. , 2015

Link: https://doi.org/10.5812/..

12

Four Novel p.N385K, p.V36A, c.1033–1034insT andc.1417–1418d..:

Manshadi, Masoumeh ; Kamalidehghan, Behnam ; Keshavarzi, Fatemeh...
International Journal of Molecular Sciences. 16 (2015) 4 - p. 6668-6676 , 2015

Link: https://doi.org/10.3390/..

13

Use of in silico tools for classification of novel missense..:

Nouri, Narges ; Fazel-Najafabadi, Esmat ; Behnam, Mahdieh...
Gene. 535 (2014) 2 - p. 250-254 , 2014

Link: https://doi.org/10.1016/..

14

Gene Expression Profiling of Mitochondrial Oxidative Phosph..:

Salehi, Mohammad Hossein ; Kamalidehghan, Behnam ; Houshmand, Massoud...
PLoS ONE. 9 (2014) 4 - p. e94069 , 2014

Link: https://doi.org/10.1371/..

15

A newly identified c.1824_1828dupATACG mutation in exon 13 ..:

Aryani, Omid ; Manshadi, Masoumeh Dehghan ; Tondar, Mahdi...
Molecular Biology Reports. 41 (2014) 9 - p. 6211-6214 , 2014

Link: https://doi.org/10.1007/..