Search Results - "genetic testing"

Congenital dyserythropoietic anemia type IV with kruppel-like factor 1 E325K mutation in a preterm neonate: Case and literature review by Reema Garegrat, Suprabha K Patnaik, Nandini Malshe, Sandip P Bartakke, Vibha Bafna, Pradeep Suryawanshi

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Patient-Patient Similarity-Based Screening of a Clinical Data Warehouse to Support Ciliopathy Diagnosis by Xiaoyi Chen, Xiaoyi Chen, Xiaoyi Chen, Carole Faviez, Carole Faviez, Marc Vincent, Luis Briseño-Roa, Hassan Faour, Jean-Philippe Annereau, Stanislas Lyonnet, Mohamad Zaidan, Sophie Saunier, Nicolas Garcelon, Nicolas Garcelon, Nicolas Garcelon, Anita Burgun, Anita Burgun, Anita Burgun

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Study protocol: a cluster randomized controlled trial of web-based decision support tools for increasing BRCA1/2 genetic counseling referral in primary care by Thomas B. Silverman, Alejandro Vanegas, Awilda Marte, Jennie Mata, Margaret Sin, Juan Carlos Rodriguez Ramirez, Wei-Yann Tsai, Katherine D. Crew, Rita Kukafka

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Case Report: The Association of Wilson Disease in a Patient With Ataxia and GLUT-1 Deficiency by Jenna Diaz, Ashley G. Fonseca, Richard Arboleda, Alejandro Frade, Maria Pilar Gennaro, Parul Jayakar, Paula Schleifer, Erick Hernandez

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CHROMOSOMAL ABNORMALITIES AND Y CHROMOSOME MICRODELETIONS IN BULGARIAN MALE WITH AZOOSPERMIA OR SEVERE OLIGOSPERMIA by Katya Kovacheva, Rumen Kotsev, Emiliana Konova, Violeta Rilcheva, Zornitsa Kamburova, Maria Simeonova

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Non-classical 11β-hydroxylase deficiency caused by compound heterozygous mutations: a case study and literature review by Dongdong Wang, Jiahui Wang, Tong Tong, Qing Yang

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Pathways to fatherhood: clinical experiences with assisted reproductive technology in single and coupled intended fathers by Brent Monseur, M.D., Sc.M, Joseph A. Lee, B.A, Melody Qiu, M.Sc, Angely Liang, B.S, Alan B. Copperman, M.D, Mark Leondires, M.D

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A deep dive into the morphokinetics and ploidy of low-quality blastocysts by Molly M. Quinn, M.D, Philip Marsh, M.S, Salustiano Ribeiro, M.S, Rhodel K. Simbulan, M.S, Mitchell P. Rosen, M.D

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DEMYSTIFYING BAG3 CARDIOMYOPATHY by Yulith Roca Alvarez, MD

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Metaphase II (MII) human oocytes with smooth endoplasmic reticulum clusters do not affect blastocyst euploid rate by Christine Shan-Chi Chiu, Tzu-Yu Hung, Ming-Huei Lin, Robert Kuo-Kuang Lee, Yu-Wen Weng, Yuh-Ming Hwu

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A case report of a 30-year-old male with megacystis-microcolon-intestinal hypoperistalsis syndrome with de novo ACTG2 gene mutation by Knežević Violeta V., Knežević Aleksandar D., Milijašević Dragana S., Božić Dušan Đ., Milijašević Boris Ž.

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Could PGT-A pick up true abnormalities that have clinical relevance? Retrospective analysis of 1043 embryos by Yung-Liang Liu, Tzu-Ning Yu, Peng-Hui Wang, Chii-Ruey Tzeng, Ching-Hui Chen, Chi-Huang Chen

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Mutação no gene scn1a e suas diferentes expressões fenotípicas - comparação de dois casos by Brenda Klemm Arci Mattos de Freitas Alves, Flávia Nardes dos Santos

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More than meets the eye: Palmoplantar keratoderma and arrhythmogenic right ventricular cardiomyopathy in a patient with loss of the DSP gene by Jessica Victoria Yao, MD, BBMed, Ingrid Winship, MBChB, MD, FRACP, FACD, FAICD

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Malignant Brenner tumor associated with a germline BRCA2 mutation by Michael D. Toboni, Haller J. Smith, Sarah E. Dilley, Lea Novak, Charles A. Leath

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Primary rhabdoid tumor of the ovary: When large cells become small cells by Alex Rabinovich, Leora Witkowski, Ruthy Shaco-Levi, Mihai Meirovitz, Martin Hasselblatt, William D. Foulkes

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Unusual cystic sebaceous neoplasm prompts cascade testing by Ryan A. Hotchkiss, BS, Felix Yang, BS, Mary Beth Gadarowski, MD, Michael P. Orejudos, MD, Carolyn A. Hardin Robinson, DO

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Clinical and Genetic Diagnosis of Friedreich's Ataxia by J Gordon Millichap

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Maturity Onset Diabetes of the Young: A Rare Monogenic Form of Diabetes by Mini Kallarackal

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COLQ-Mutant Congenital Myasthenic Syndromes by J Gordon Millichap

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