Resultats de la cerca - Behnam, Mahdiyeh

Sirenomelia: two case reports per 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 per 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 per Dehghan, Roghayeh, Behnam, Mahdiyeh, Salehi, Mansoor, Kelishadi, Roya

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Further supporting evidence for REEP1 phenotypic and allelic heterogeneity per 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 per 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 per 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 per 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 per 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 per 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 per 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 per 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 per 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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