Arama Sonuçları - "recession"

Linkage and exome analysis implicate multiple genes in non-syndromic intellectual disability in a large Swedish family Yazar: Eva Lindholm Carlström, Jonatan Halvardson, Mitra Etemadikhah, Lennart Wetterberg, Karl-Henrik Gustavson, Lars Feuk

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Case Report: A Novel Homozygous Mutation of Cyclin O Gene Mutation in Primary Ciliary Dyskinesia with Short Stature Yazar: Gong D, Tang Q, Yan LJ, Ye XM, Yang YC, Zou L, Ji Q, Wen XL

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Genotype-phenotype correlation in Jordanian children with genetically-proven familial Mediterranean fever: The effect of R202Q mutation Yazar: Eyad Altamimi, Dua` N. Samara, Dima Bani Issa, Saied Jaradat, Wail Hayajneh

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Improving outcomes for patients with distal renal tubular acidosis: recent advances and challenges ahead Yazar: Watanabe T

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Clinical features and CPS1 variants in Chinese patients with carbamoyl phosphate synthetase 1 deficiency Yazar: Hui Dong, Tian Sang, Xue Ma, Jinqing Song, Zhehui Chen, Huiting Zhang, Ying Jin, Mengqiu Li, Dingding Dong, Liying Sun, Zhijun Zhu, Yao Zhang, Yanling Yang

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A newly identified mutation (c.2029 C > T) in SLC26A4 gene is associated with enlarged vestibular aqueducts in a Chinese family Yazar: Ting Wu, Limei Cui, Yakui Mou, Wentao Guo, Dawei Liu, Jingjing Qiu, Cong Xu, Jiamin Zhou, Fengchan Han, Yan Sun

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Influence of rough micro-threaded and laser micro-textured implant-neck on peri-implant tissues: A systematic review Yazar: Wayel Mohammed Huraib, Fawaz Pullishery, Thamer Abdulmohshin Al-Ghalib, Adham Abdulmajeed Tash Niyazi, Haitham Binhuraib, Mahmoud El Homossany, Malak Saeed Bamigdad

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High detection rate for disease-causing variants in a cohort of 30 Iranian pediatric steroid resistant nephrotic syndrome cases Yazar: Maryam Najafi, Maryam Najafi, Korbinian M. Riedhammer, Korbinian M. Riedhammer, Aboulfazl Rad, Aboulfazl Rad, Paria Najarzadeh Torbati, Riccardo Berutti, Isabel Schüle, Sophie Schroda, Thomas Meitinger, Jasmina Ćomić, Jasmina Ćomić, Simin Sadeghi Bojd, Tayebeh Baranzehi, Azadeh Shojaei, Anoush Azarfar, Mahmood Reza Khazaei, Anna Köttgen, Anna Köttgen, Rolf Backofen, Rolf Backofen, Ehsan Ghayoor Karimiani, Ehsan Ghayoor Karimiani, Julia Hoefele, Miriam Schmidts, Miriam Schmidts, Miriam Schmidts

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A 12 Week Fetus with Anophthalmia, Limb Anomalies and Infratemporal Teratoma Yazar: Lu Y, Zhao JJ, He P

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Molecular analysis of the <it>APC </it>and <it>MUTYH </it>genes in Galician and Catalonian FAP families: a different spectrum of mutations? Yazar: Gómez-Fernández Nuria, Castellví-Bel Sergi, Fernández-Rozadilla Ceres, Balaguer Francesc, Muñoz Jenifer, Madrigal Irene, Milà Montserrat, Graña Begoña, Vega Ana, Castells Antoni, Carracedo Ángel, Ruiz-Ponte Clara

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A Retrospective Study on the Clinical, Laboratory, and Nutritional Status of Pediatric Epidermolysis Bullosa in a Tertiary Referral Hospital in West Java, Indonesia Yazar: Tsaqilah L, Diana IA, Gondokaryono SP, Effendi RMRA, Suwarsa O, Gunawan H, Hidayah RMN, Dwiyana RF

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The polymorphism G894 T of endothelial nitric oxide synthase (eNOS) gene is associated with susceptibility to essential hypertension (EH) in Morocco Yazar: Sanaa Nassereddine, Hind Hassani Idrissi, Rachida Habbal, Rhizlane Abouelfath, Farah Korch, Majda Haraka, Adnane Karkar, Sellama Nadifi

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Compound heterozygous variants in DYNC2H1 in a foetus with type III short rib-polydactyly syndrome and situs inversus totalis Yazar: Chen Cheng, Xiuxiu Li, Sheng Zhao, Qian Feng, Xiang Ren, Xinlin Chen

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The genetics of amelogenesis imperfecta: a review of the literature Genética da amelogênese imperfeita: uma revisão da literatura Yazar: Maria Cristina Leme Godoy dos Santos, Sergio Roberto Peres Line

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Molecular analyses in Indonesian individuals with intellectual disability and microcephaly Yazar: Farmaditya EP Mundhofir, Rahajeng N Tunjungputri, Willy M Nillesen, Bregje WM van Bon, Martina Ruiterkamp-Versteeg, Tri I Winarni, Ben CJ Hamel, Helger G Yntema, Sultana MH Faradz

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Clinicopathological study of xeroderma pigmentosa: A series of eight cases Yazar: Kakali Roy, Sahana P Raju, Subhra Dhar, Sandipan Dhar

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A 1-year analysis from a natural history study in Chinese individuals with Duchenne muscular dystrophyResearch in context Yazar: Xihua Li, Junlan Lv, Wenhua Zhu, Siqi Hong, Zhiqiang Wang, Xingzhi Chang, Ying Xu Gao, Yangmei Zhou, Caiping Jia, Jia Fang, Terrell A. Patterson

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Association Between Macrophage Migration Inhibitory Factor -173 G>C Gene Polymorphism and Childhood Idiopathic Nephrotic Syndrome: A Meta-Analysis Yazar: Daojing Ying, Mengjie Jiang, Liping Rong, Hongjie Zhuang, Lizhi Chen, Yuanyuan Xu, Xiaoyun Jiang

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A short in-frame deletion in NTRK1 tyrosine kinase domain caused by a novel splice site mutation in a patient with congenital insensitivity to pain with anhidrosis Yazar: Arístegui Javier, Garrote Elisa, Rodríguez Jose A, Sarasola Esther, García-Barcina Maria J

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Congenital hallux valgus occurs in Fibrodysplasia Ossificans Progressiva and BMPR1B-associated dysplasia: an important distinction Yazar: Diksha Shirodkar, Sarah Francesca Smithson, Richard Keen, Tracy Lester, Benito Banos-Pinero, Christine Pamela Burren

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