Search Results - "comparative genomics"

Prenatal diagnosis of ALPL gene mutations in recurrent fetal skeletal dysplasia by Shu-Han You, Chia-Lung Tsai, Chih-Peng Lin, Shuenn-Dyh Chang, Yao-Lung Chang

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Prenatal diagnosis of partial monosomy 21q (21q22.1→qter) associated with intrauterine growth restriction and corpus callosum dysgenesis by Ying-Chung Chen, Wan-Ju Wu, Shun-Ping Chang, Gwo-Chin Ma, Ming Chen

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A Copy Number Variant on Chromosome 20q13.3 Implicated in Thinness and Severe Obesity by Sandra J. Hasstedt, Yuanpei Xin, Rong Mao, Tracey Lewis, Ted D. Adams, Steven C. Hunt

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Oculo-auriculo-vertebral spectrum with myopathy and velopharyngeal insufficiency. A case report with a non-branchiomeric muscle biopsy by Giovanni Murialdo, Attilia Piazzi, Giuseppe Badolati, Enrico Calcagno, Agostino Berio

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2q37 deletion syndrome in a Colombian patient with macrocephaly: a case report by Sebastian Giraldo-Ocampo, Harry Pachajoa

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Deletion of the RNF6 gene in a patient with epileptic encephalopathy - a case report and literature review by Michał Stefan, Paweł Zapolnik, Antoni Pyrkosz

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Severe Extremity Anomaly and Neurodevelopmental Retardation in an Infant with TAR Syndrome and Differential Diagnosis in Radial Defects by Gökcen Karamık, Nuray Öztürk, Banu Nur, Gülsün Karasu, Ercan Mıhçı

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Microcephaly, Deafness, and Renal Dysplasia: A Case of Barakat Syndrome by shahin mafinejad, Hadi Khorsand Zak, Ghasem Bayani, Hojatollah Ehteshammanesh, Yasaman Bozorgnia

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Pathogenomics insights for understanding Pasteurella multocida adaptation by Raquel Hurtado, Lenin Maturrano, Vasco Azevedo, Flávia Aburjaile

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Síndrome de Arboleda-Tham causado por nova variante genética by Ivana Cardoso, Margarida Fernandes, Rita Quental, Marta Vila Real, Fátima Santos

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Coarctation of the aorta and mild to moderate developmental delay in a child with a <it>de novo </it>deletion of chromosome 15(q21.1q22.2) by Peters Sarika U, Sanders Merideth E, Sahoo Trilochan, Lalani Seema R, Bejjani Bassem A

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Prenatal diagnosis of a familial 9p12 amplification inherited from a father carrier by Chih-Ping Chen, Chen-Yu Chen, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Fang-Tzu Wu, Yun-Yi Chen, Chen-Chi Lee, Chen-Wen Pan, Wayseen Wang

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A Duplication Upstream of SOX9 Associated with SRY Negative 46,XX Ovotesticular Disorder of Sex Development: A Case Report by Eda Mengen, Gülsüm Kayhan, Pınar Kocaay, Seyit Ahmet Uçaktürk

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Autologous Platelet Rich Plasma (PRGF) Preserves Genomic Stability of Gingival Fibroblasts and Alveolar Osteoblasts after Long-Term Cell Culture by Eduardo Anitua, María de la Fuente, María Troya, Mar Zalduendo, Mohammad Hamdan Alkhraisat

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Clinical characterization of patients with schizophrenia and 16p13.11 duplication: A case series by Hiroki Kimura, Itaru Kushima, Masahiro Banno, Toshiya Inada, Akira Yoshimi, Branko Aleksic, Norio Ozaki

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Prenatal case of RIT1 mutation associated Noonan syndrome by whole exome sequencing (WES) and review of the literature by Zilong Qiu, Wan-Ting Chang, Yu-Ching Chou, Kuo-Chang Wen, Yang Ziying, Kayiu Yuen, Xiongying Cai, Tung-yao Chang, Hung-Cheng Lai, Pi-Lin Sung

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Multiple copy number variation in a patient with Kleefstra syndrome by Thomas Nohama Lee, Henrique El Laden Rechetello, João Batista De Arêa Lima Júnior, João Pedro Fagoti Ferraz Cornelio, Naiara Bozza Pegoraro, Salmo Raskin, Liya Regina Mikami

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A de novo PUM1 Variant in a Girl With a Dravet-Like Syndrome: Case Report and Literature Review by Yuanzhen Ye, Zhanqi Hu, Jiahui Mai, Li Chen, Dezhi Cao, Jianxiang Liao, Jing Duan

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A clinical appraisal of the genetic basis in unexplained male infertility by Sandro C Esteves

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The role of ultrasound and genetic counsel in prenatal diagnosis of split hand/foot malformation with long bone deficiency by Anna Kucińska-Chahwan, Dominika Szczęśniak, Beata Nowakowska, Tomasz Roszkowski

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