Søgeresultater - Behnam, Mahdiyeh

Sirenomelia: two case reports af Shojaee, Asiyeh, Ronnasian, Firooze, Behnam, Mahdiyeh, Salehi, Mansoor

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A Novel Mutation in the VPS13B Gene in a Cohen Syndrome Patient with Positive Antiphospholipid Antibodies af Dehghan, Roghayeh, Behnam, Mahdiyeh, Moafi, Alireza, Salehi, Mansoor

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Novel Mutations in the MKKS, BBS7, and ALMS1 Genes in Iranian Children with Clinically Suspected Bardet–Biedl Syndrome af Dehghan, Roghayeh, Behnam, Mahdiyeh, Salehi, Mansoor, Kelishadi, Roya

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Further supporting evidence for REEP1 phenotypic and allelic heterogeneity af Maroofian, Reza, Behnam, Mahdiyeh, Kaiyrzhanov, Rauan, Salpietro, Vincenzo, Salehi, Mansour, Houlden, Henry

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A novel missense mutation in the GNE gene in an Iranian patient with hereditary inclusion body myopathy af Behnam, Mahdiyeh, Jin-Hong, Shin, Kim, Dae-Seong, Basiri, Keivan, Nilipour, Yalda, Sedghi, Maryam

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Genotype-phenotype correlation of survival motor neuron and neuronal apoptosis inhibitory protein genes in spinal muscular atrophy patients from Iran af Sedghi, Maryam, Behnam, Mahdiyeh, Fazel, Esmat, Salehi, Mansoor, Ganji, Hamid, Meamar, Rokhsareh, Hosseinzadeh, Majid, Nouri, Nayereh

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Prevalence of 22q11.2 microdeletion syndrome in Iranian patients with cleft palate af Nouri, Narges, Memarzadeh, Mehrdad, Salehi, Mansoor, Nouri, Nayereh, Meamar, Rokhsareh, Behnam, Mahdiyeh, Derakhshandeh, Fatemeh, Kashkoolinejad, Tahereh, Abdali, Hossein

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Whole Exome Sequencing Revealed a Novel GJB1 Pathogenic Variant and a Rare BSCL2 Mutation in Two Iranian Large Pedigrees with Multiple Affected Cases of Charcot-Marie-Tooth af Mohsenpour, Neda, Roknizadeh, Hassan, Maghbooli, Mehdi, Changi-Ashtiani, Majid, Shahrooei, Mohammad, Salehi, Mansoor, Behnam, Mahdiyeh, Shahani, Tina, Biglari, Alireza

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Two novel homozygous RAB3GAP1 mutations cause Warburg micro syndrome af Imagawa, Eri, Fukai, Ryoko, Behnam, Mahdiyeh, Goyal, Manisha, Nouri, Narges, Nakashima, Mitsuko, Tsurusaki, Yoshinori, Saitsu, Hirotomo, Salehi, Mansour, Kapoor, Seema, Tanaka, Fumiaki, Miyake, Noriko, Matsumoto, Naomichi

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Novel EYA1 Variants Causing Branchio-Oto-Renal Syndrome af Klingbeil, Kyle D., Greenland, Christopher M., Arslan, Selcuk, Paneque, Arianne Llamos, Gurkan, Hakan, Ulusal, Selma Demir, Maroofian, Reza, Carrera-Gonzalez, Andrea, Montufar-Armendariz, Stefany, Paredes, Rosario, Elcioglu, Nursel, Menendez, Ibis, Behnam, Mahdiyeh, Foster, Joseph, Guo, Shengru, Escarfuller, Sebastian, Cengiz, Filiz Basak, Duman, Duygu, Bademci, Guney, Tekin, Mustafa

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Spectrum of DNA variants for nonsyndromic deafness in a large cohort from multiple continents af Yan, Denise, Tekin, Demet, Bademci, Guney, Foster, Joseph, Cengiz, F. Basak, Kannan-Sundhari, Abhiraami, Guo, Shengru, Mittal, Rahul, Zou, Bing, Grati, Mhamed, Kabahuma, Rosemary I., Kameswaran, Mohan, Lasisi, Taye J, Adedeji, Waheed A, Lasisi, Akeem O., Menendez, Ibis, Herrera, Marianna, Carranza, Claudia, Maroofian, Reza, Crosby, Andrew H., Bensaid, Mariem, Masmoudi, Saber, Behnam, Mahdiyeh, Mojarrad, Majid, Feng, Yong, Duman, Duygu, Mawla, Alex M., Nord, Alex S., Blanton, Susan H., Liu, Xuezhong, Tekin, Mustafa

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Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism af Ansari, Morad, Poke, Gemma, Ferry, Quentin, Williamson, Kathleen, Aldridge, Roland, Meynert, Alison M, Bengani, Hemant, Chan, Cheng Yee, Kayserili, Hülya, Avci, Şahin, Hennekam, Raoul C M, Lampe, Anne K, Redeker, Egbert, Homfray, Tessa, Ross, Alison, Falkenberg Smeland, Marie, Mansour, Sahar, Parker, Michael J, Cook, Jacqueline A, Splitt, Miranda, Fisher, Richard B, Fryer, Alan, Magee, Alex C, Wilkie, Andrew, Barnicoat, Angela, Brady, Angela F, Cooper, Nicola S, Mercer, Catherine, Deshpande, Charu, Bennett, Christopher P, Pilz, Daniela T, Ruddy, Deborah, Cilliers, Deirdre, Johnson, Diana S, Josifova, Dragana, Rosser, Elisabeth, Thompson, Elizabeth M, Wakeling, Emma, Kinning, Esther, Stewart, Fiona, Flinter, Frances, Girisha, Katta M, Cox, Helen, Firth, Helen V, Kingston, Helen, Wee, Jamie S, Hurst, Jane A, Clayton-Smith, Jill, Tolmie, John, Vogt, Julie, Tatton–Brown, Katrina, Chandler, Kate, Prescott, Katrina, Wilson, Louise, Behnam, Mahdiyeh, McEntagart, Meriel, Davidson, Rosemarie, Lynch, Sally-Ann, Sisodiya, Sanjay, Mehta, Sarju G, McKee, Shane A, Mohammed, Shehla, Holden, Simon, Park, Soo-Mi, Holder, Susan E, Harrison, Victoria, McConnell, Vivienne, Lam, Wayne K, Green, Andrew J, Donnai, Dian, Bitner-Glindzicz, Maria, Donnelly, Deirdre E, Nellåker, Christoffer, Taylor, Martin S, FitzPatrick, David R

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