Rezultati - Behnam, Mahdiyeh

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

Polni tekst Polni tekst Polni tekst

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

Polni tekst Polni tekst Polni tekst

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

Polni tekst Polni tekst Polni tekst

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

Polni tekst Polni tekst Polni tekst

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

Polni tekst Polni tekst

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

Polni tekst Polni tekst Polni tekst

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

Polni tekst Polni tekst Polni tekst

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 od Mohsenpour, Neda, Roknizadeh, Hassan, Maghbooli, Mehdi, Changi-Ashtiani, Majid, Shahrooei, Mohammad, Salehi, Mansoor, Behnam, Mahdiyeh, Shahani, Tina, Biglari, Alireza

Polni tekst Polni tekst Polni tekst

Two novel homozygous RAB3GAP1 mutations cause Warburg micro syndrome od 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

Polni tekst Polni tekst Polni tekst

Novel EYA1 Variants Causing Branchio-Oto-Renal Syndrome od 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

Polni tekst Polni tekst Polni tekst

Spectrum of DNA variants for nonsyndromic deafness in a large cohort from multiple continents od 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

Polni tekst Polni tekst Polni tekst

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism od 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

Polni tekst Polni tekst Polni tekst