Search Results - "genetic counseling"

Aarskog-Scott syndrome: A perspective on growth and the influence of growth hormone therapy: Case-based review of literature by Babulreddy Hanmayyagari, Mounika Guntaka, Jayanthy Ramesh

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Hairless Gene Nonsense Mutations in Alopecia Universalis: A Case Report by Hamed Heidary, Ali Mardi, Seyyed Mohammad Mousavi, Ghasem Khazaie, Fereshteh Golab

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Congenital hemangioma in spondylocostal dysostosis: a novel association by Victor Michael Salinas-Torres

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Clinical management and emerging therapies of FGFR3-related skeletal dysplasia in childhood by Hwa Young Kim, Jung Min Ko

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A novel termination site in a case of Stüve-Wiedemann syndrome: case report and review of literature by Deepali Bhalla, Sunil Sati, Donald Basel, Vijender Karody

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Spinal Cord Involvement in Pediatric-Onset Metabolic Disorders With Mendelian and Mitochondrial Inheritance by Brahim Tabarki, Wejdan Hakami, Nader Alkhuraish, Kalthoum Tlili-Graies, Majid Alfadhel, Majid Alfadhel

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Eight year follow-up dental treatment in a patient with Treacher Collins syndrome by E Ranadheer, K Nagaraju, P Suresh, M Updesh

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General aspects and current view of the molecular study of Phenylketonuria (PKU) in Mexico by Miguel Ángel Alcántara-Ortigoza, Benilde García-de Teresa, Rehotbevely Barrientos- Ríos

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Pregnancy in hereditary sensory and autonomic neuropathy type V: A case report and literature review by Daisuke Higeta, Akihito Morita, Risa Uehara, Maki Inoue, Takashi Kameda, Akira Iwase

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The importance to update the guidelines for the use of genetic testing in noncancer patients in Brazil by Tirzah Braz Petta Lajus

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Autism Spectrum Disorders The Role of Genetics in Diagnosis and Treatment

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Two Novel ATP2C1 Mutations in Portuguese Patients with Hailey-Hailey Disease by Sofia Antunes-Duarte, Maria Mendonça-Sanches, Rita Pimenta, Ana Margarida Coutinho, Catarina Silveira, Luís Soares-, Paulo Filipe

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Premature ovarian failure related to trisomy X: Two case reports with an aberrant 47, XXX karyotype by Paresh Singhal, Sharanjit Singh, Praveen Kumar, Nikita Naredi

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Hirschsprung disease in twins: A case series by Kelly Banh, Rebecca Moreci, Hans Andersson, Jessica A. Zagory

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Congenital giant melanocytic nevus. A case report by Jesús Daniel de la Rosa Santana, Lesyania Segura Linares, Giselle Lucia Vázquez Gutierrez

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Chromosomal Abnormalities Associated With Omphalocele by Chih-Ping Chen

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Genetic regulation of linear growth by Shanna Yue, Philip Whalen, Youn Hee Jee

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Nonsyndromic dentin genetic diseases: Dentinogenesis imperfecta Type III: A unique presentation of rhizomegaly, taurodontism, and dilacerated roots by Vela D Desai, Rajeev Chitguppi

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Iniencephaly and Holoprosencephaly: Report of a Rare Association by Aytekin Tokmak, Hakan Timur, Korkut Dağlar, Özgür Kara

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Case Report: The Genetic Diagnosis of Duchenne Muscular Dystrophy in the Middle East by Fouad Alghamdi, Asmaa Al-Tawari, Hadil Alrohaif, Walaa Alshuaibi, Walaa Alshuaibi, Hicham Mansour, Annemieke Aartsma-Rus, André Mégarbané

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