Introducing a quantitative method to calculate the rate of primary infertility von Akhondi, Mm, Kamali, K, Ranjbar, F, Shafeghati, S, Ardakani, Z Behjati, Shirzad, M, Eslamifar, M, Mohammad, K, Parsaeian, M

Volltext

Introducing a Quantitative Method to Calculate the Rate of Primary Infertility von Akhondi, MM, Kamali, K, Ranjbar, F, Shafeghati, S, Ardakani, Z Behjati, Shirzad, M, Eslamifar, M, Mohammad, K, Parsaeian, M

Volltext

LMNA mutations in atypical Werner's syndrome von Chen, Lishan, Lee, Lin, Kudlow, Brian A, Dos Santos, Heloisa G, Sletvold, Olav, Shafeghati, Yousef, Botha, Eleanor G, Garg, Abhimanyu, Hanson, Nancy B, Martin, George M, Mian, I Saira, Kennedy, Brian K, Oshima, Junko

Volltext

A comparative study of group delay equalizers for satellite communications von Shafeghati, Mohsen, Ahmadi, Behzad, Torabi, Abdorreza

Volltext

Mild reduction of plasmalogens causes rhizomelic chondrodysplasia punctata: functional characterization of a novel mutation von Noguchi, Masafumi, Honsho, Masanori, Abe, Yuichi, Toyama, Ryusuke, Niwa, Hajime, Sato, Yoshiteru, Ghaedi, Kamran, Rahmanifar, Ali, Shafeghati, Yousef, Fujiki, Yukio

Volltext

A new methodology in generating Digital Plants in AVEVA PDMS from Navisworks® model von Nasirifar, Reyhaneh, Shafeghati, Shahram, Valipour, Iman

Volltext

A molecular and clinical study of Larsen syndrome caused by mutations in FLNB von Bicknell, Louise S, Farrington-Rock, Claire, Shafeghati, Yousef, Rump, Patrick, Alanay, Yasemin, Alembik, Yves, Al-Madani, Navid, Firth, Helen, Karimi-Nejad, Mohammad Hassan, Kim, Chong Ae, Leask, Kathryn, Maisenbacher, Melissa, Moran, Ellen, Pappas, John G, Prontera, Paolo, de Ravel, Thomy, Fryns, Jean-Pierre, Sweeney, Elizabeth, Fryer, Alan, Unger, Sheila, Wilson, L C, Lachman, Ralph S, Rimoin, David L, Cohn, Daniel H, Krakow, Deborah, Robertson, Stephen P

Volltext

A clinical and molecular genetic study of 112 Iranian families with primary microcephaly von Darvish, H, Esmaeeli-Nieh, S, Monajemi, G B, Mohseni, M, Ghasemi-Firouzabadi, S, Abedini, S S, Bahman, I, Jamali, P, Azimi, S, Mojahedi, F, Dehghan, A, Shafeghati, Y, Jankhah, A, Falah, M, Soltani Banavandi, M J, Ghani-Kakhi, M, Garshasbi, M, Rakhshani, F, Naghavi, A, Tzschach, A, Neitzel, H, Ropers, H H, Kuss, A W, Behjati, F, Kahrizi, K, Najmabadi, H

Volltext

Compound heterozygous p. Arg949Trp and p. Gly970Ala mutations deteriorated the function of PEX1p: A study on PEX1 in a patient with Zellweger syndrome von Alamatsaz, Marzieh, Jalalypour, Farzaneh, Hashemi, Motahare‐Sadat, Shafeghati, Yousef, Nasr‐Esfahani, Mohammad Hossein, Ghaedi, Kamran

Volltext

Identification of CANT1 Mutations in Desbuquois Dysplasia von Huber, Céline, Oulès, Bénédicte, Bertoli, Marta, Chami, Mounia, Fradin, Mélanie, Alanay, Yasemin, Al-Gazali, Lihadh I., Ausems, Margreet G.E.M., Bitoun, Pierre, Cavalcanti, Denise P., Krebs, Alexander, Le Merrer, Martine, Mortier, Geert, Shafeghati, Yousef, Superti-Furga, Andrea, Robertson, Stephen P., Le Goff, Carine, Muda, Andrea Onetti, Paterlini-Bréchot, Patrizia, Munnich, Arnold, Cormier-Daire, Valérie

Volltext

Investigation of Chromosomal Abnormalities and Microdeletion/ Microduplication(s) in Fifty Iranian Patients with Multiple Congenital Anomalies von Mohammadzadeh, Akbar, Akbaroghli, Susan, Aghaei-Moghadam, Ehsan, Mahdieh, Nejat, Badv, Reza Shervin, Jamali, Payman, Kariminejad, Roxana, Chavoshzadeh, Zahra, Ghasemi Firouzabadi, Saghar, Mansour Ghanaie, Roxana, Nozari, Ahoura, Banihashemi, Sussan, Hadipour, Fatemeh, Hadipour, Zahra, Kariminejad, Ariana, Najmabadi, Hossein, Shafeghati, Yousef, Behjati, Farkhondeh

Volltext

Phenotypic Overlap of Roberts and Baller-Gerold Syndromes in Two Patients With Craniosynostosis, Limb Reductions, and ESCO2 Mutations von Colombo, Elisa Adele, Mutlu-Albayrak, Hatice, Shafeghati, Yousef, Balasar, Mine, Piard, Juliette, Gentilini, Davide, Di Blasio, Anna Maria, Gervasini, Cristina, Van Maldergem, Lionel, Larizza, Lidia

Volltext

Erratum: Mild reduction of plasmalogens causes rhizomelic chondrodysplasia punctata: functional characterization of a novel mutation von Noguchi, Masafumi, Honsho, Masanori, Abe, Yuichi, Toyama, Ryusuke, Niwa, Hajime, Sato, Yoshiteru, Ghaedi, Kamran, Rahmanifar, Ali, Shafeghati, Yousef, Fujiki, Yukio

Volltext

Unilateral Kidney Agenesis in a Child with Fraser Syndrome: A Case Report von Metanat, Zahra, Tabatabaei, Seyed Mehdi, Zenker, Martin, Shafeghati, Yousef

Volltext

Yunis-Varón syndrome: the first report of two Iranian cases von Hadipour, Zahra, Shafeghati, Yousef, Hadipour, Fatemeh

Volltext

Effects of Miglustat on Stabilization of Neurological Disorder in Niemann–Pick Disease Type C: Iranian Pediatric Case Series von Karimzadeh, Parvaneh, Tonekaboni, Seyed Hassan, Ashrafi, Mahmoud Reza, Shafeghati, Yousef, Rezayi, Alireza, Salehpour, Shadab, Ghofrani, Mohammad, Taghdiri, Mohammad Mehdi, Rahmanifar, Ali, Zaman, Talieh, Aryani, Omid, Shoar, Babak Najaf, Shiva, Farideh, Tavasoli, Alireza, Houshmand, Massoud

Volltext

Fraccaro syndrome: report of two Iranian cases: an infant and an adult in a family von Hadipour, Fatemeh, Shafeghati, Yousef, Bagherizadeh, Eiman, Behjati, Farkhondeh, Hadipour, Zahra

Volltext

Prevalence of Primary Infertility in Iran in 2010 von Akhondi, Mohammad Mehdi, Kamali, Koorosh, Ranjbar, Fahimeh, Shirzad, Mahdi, Shafeghati, Shiva, Behjati Ardakani, Zohreh, Goodjani, Abolfazl, Parsaeian, Mahboubeh, Mohammad, Kazem

Volltext

Whole-Exome Sequencing Identifies Three Candidate Homozygous Variants in a Consanguineous Iranian Family with Autism Spectrum Disorder and Skeletal Problems von Farajzadeh Valilou, Saeed, Alavi, Afagh, Pashaei, Mahdiyeh, Ghasemi Firouzabadi, Saghar, Shafeghati, Yousef, Nozari, Ahoura, Hadipour, Fatemeh, Hadipour, Zahra, Maghsoodlou Estrabadi, Bijan, Gholamreza Noorazar, Seyed, Banihashemi, Susan, Karimian, Javad, Fattahi, Mahshid, Behjati, Farkhondeh

Volltext

Fraser syndrome due to homozygosity for a splice site mutation of FREM2 von Shafeghati, Yousef, Kniepert, Andrea, Vakili, Ghazal, Zenker, Martin

Volltext