Search Results - "genetic counseling"

Case report: adult onset diabetes with partial pancreatic agenesis and congenital heart disease due to a de novo GATA6 mutation by Begona Sanchez-Lechuga, Muhammad Saqlain, Nicholas Ng, Kevin Colclough, Conor Woods, Maria Byrne

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A PMM2-CDG caused by an A108V mutation associated with a heterozygous 70 kilobases deletion case report by E. Lebredonchel, A. Riquet, D. Neut, F. Broly, G. Matthijs, A. Klein, F. Foulquier

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A novel splice site mutation in WAS gene in patient with Wiskott-Aldrich syndrome and chronic colitis: a case report by Hossein Esmaeilzadeh, Mohammad Reza Bordbar, Hassan Dastsooz, Mohammad Silawi, Mohammad Ali Farazi Fard, Ali Adib, Ali Kafashan, Zahra Tabatabaei, Forough Sadeghipour, Mohammad Ali Faghihi

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Novel nonsense mutation p. Gln264Ter in the ANK1 confirms causative role for hereditary spherocytosis: a case report by Senmao Chai, Rong Jiao, Xiaodong Sun, Pan Fu, Qiang Zhao, Ming Sang

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Next-generation sequencing for identifying a novel/de novo pathogenic variant in a Mexican patient with cystic fibrosis: a case report by Angélica Martínez-Hernández, Julieta Larrosa, Francisco Barajas-Olmos, Humberto García-Ortíz, Elvia C. Mendoza-Caamal, Cecilia Contreras-Cubas, Elaheh Mirzaeicheshmeh, José Luis Lezana, Lorena Orozco

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Non-Genetic Healthcare Providers' Experiences and Perspectives with Rapid Genome-Wide Sequencing in Canadian Neonatal Intensive Care Units by Lauren Piers, Tasha Wainstein, Gustavo Pelligra, Horacio Osiovich, GenCOUNSEL Study, Alison M. Elliott

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The presence and distribution of various genes in postnatal CLP-affected palatine tissue by Jana Goida, Mara Pilmane

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A long way to syndromic short stature by Federica Gaudioso, Camilla Meossi, Lidia Pezzani, Federico Grilli, Rosamaria Silipigni, Silvia Russo, Maura Masciadri, Alessandro Vimercati, Paola Giovanna Marchisio, Maria Francesca Bedeschi, Donatella Milani

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EIF2AK3 novel mutation in a child with early-onset diabetes mellitus, a case report by Tarah H. Fatani

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Targeted gene panel for genetic testing of south Indian children with steroid resistant nephrotic syndrome by Annes Siji, K. N. Karthik, Varsha Chhotusing Pardeshi, P. S. Hari, Anil Vasudevan

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Genetic Analysis of Oculocutaneous Albinism Type1A (OCA1A) in an Iranian Family by H Pour-Jafari, A Zamanian, B Pour-Jafari

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Genetiese bevindings in 'n groep Afrikaners met skisofrenie by Roos, Johannes

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Identification of a novel WAS mutation in a South African patient presenting with atypical Wiskott-Aldrich syndrome: a case report by Brigitte Glanzmann, Marlo Möller, Mardelle Schoeman, Michael Urban, Paul D. van Helden, Lisa Frigati, Ravnit Grewal, Hermanus Pieters, Ben Loos, Eileen G. Hoal, Richard H. Glashoff, Helena Cornelissen, Helena Rabie, Monika M. Esser, Craig J. Kinnear

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Identification of KRAS mutation in a patient with linear nevus sebaceous syndrome: a case report by Chun Pan, Xiaowei Zhou, Anlan Hong, Fang Fang, Yan Wang

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Multiple occurrence of psychomotor retardation and recurrent miscarriages in a family with a submicroscopic reciprocal translocation t(7;17)(p22;p13.2) by Magdalena Pasińska, Ewelina Łazarczyk, Katarzyna Jułga, Magdalena Bartnik-Głaska, Beata Nowakowska, Olga Haus

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Implications of ACMG guidelines to identify high-risk acute lymphoblastic leukemia patients with hereditary cancer susceptibility syndromes (HCSS) in a highly consanguineous popula... by Sara Aslam, Shabana, Mehboob Ahmed

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A fatal case of neonatal onset multiple acyl-CoA dehydrogenase deficiency caused by novel mutation of ETFDH gene: case report by Loredana De Pasquale, Petronilla Meo, Francesco Fulia, Antonio Anania, Valerio Meli, Antonina Mondello, Maria Tindara Raimondo, Viviana Tulino, Maria Sole Coletta, Caterina Cacace

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A novel mutation in an adolescent presenting with growth and pubertal delay by Maria-Christina Antoniou, Thérèse Bouthors, Cheng Xu, Franziska Phan-Hug, Eglantine Elowe-Gruau, Sophie Stoppa-Vaucher, Almer van der Sloot, James Acierno, Daniele Cassatella, Celine Richard, Andrew Dwyer, Nelly Pitteloud, Michael Hauschild

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Achondroplasia in Latin America: practical recommendations for the multidisciplinary care of pediatric patients by Juan Llerena, Chong Ae Kim, Virginia Fano, Pablo Rosselli, Paulo Ferrez Collett-Solberg, Paula Frassinetti Vasconcelos de Medeiros, Mariana del Pino, Débora Bertola, Charles Marques Lourenço, Denise Pontes Cavalcanti, Têmis Maria Félix, Antonio Rosa-Bellas, Norma Teresa Rossi, Fanny Cortes, Flávia Abreu, Nicolette Cavalcanti, Maria Cecilia Hervias Ruz, Wagner Baratela

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A novel mutation in <it>STK11 </it>gene is associated with Peutz-Jeghers Syndrome in Indian patients by Singh Lalji, Mohankrishna P, Rao G, Reddy D, Thakur Nikita, Chandak Giriraj R

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