Search Results - "genetic testing"

THANATOPHORIC DYSPLASIA: LITERATURE REVIEW AND CLINICAL CASE IN MONOCHORIC DIAMNIOTIC TWINS by І. Ластівка, А. Бабінцева, В. Анцупова, Л. Брішевац, О. Юрків, І. Малєєва

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Pharmacogenetics Guidelines: Overview and Comparison of the DPWG, CPIC, CPNDS, and RNPGx Guidelines by Heshu Abdullah-Koolmees, Antonius M. van Keulen, Marga Nijenhuis, Vera H. M. Deneer, Vera H. M. Deneer

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Congenital hyperinsulinism: 2 case reports with different rare variants in ABCC8 by Julie Mouron-Hryciuk, Sophie Stoppa-Vaucher, Kanetee Busiah, Thérèse Bouthors, Maria Christina Antoniou, Eric Jacot, Klaus Brusgaard, Henrik Thybo Christesen, Khalid Hussain, Andrew Dwyer, Matthias Roth-Kleiner, Michael Hauschild

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Xanthomas Can Be Misdiagnosed and Mistreated in Homozygous Familial Hypercholesterolemia Patients: A Call for Increased Awareness Among Dermatologists and Health Care Practitioners by Fahad Alnouri, Faisal A. Al-Allaf, Mohammad Athar, Zainularifeen Abduljaleel, Moheeb Alabdullah, Dalal Alammari, Menwar Alanazi, Fahmi Alkaf, Abeer Allehyani, Mohammad A. Alotaiby, Abdullah Alshehri, Abdellatif Bouazzaoui, Hussam Karrar, Mohiuddin M. Taher

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ShareDNA: a smartphone app to facilitate family communication of genetic results by Chethan Jujjavarapu, Jeevan Anandasakaran, Laura M. Amendola, Cameron Haas, Elizabeth Zampino, Nora B. Henrikson, Gail P. Jarvik, Sean D. Mooney

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Non-invasive prenatal testing: a review of international implementation and challenges by Allyse M, Minear MA, Berson E, Sridhar S, Rote M, Hung A, Chandrasekharan S

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What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosis by Arrate Pereda, Intza Garin, Spanish Network for Imprinting Disorders, Guiomar Perez de Nanclares

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Impact of mode of conception on early pregnancy human chorionic gonadotropin rise and birth weight by Hayley Richardson, M.S, Charikleia Kalliora, M.D., M.Sc, Monica Mainigi, M.D, Christos Coutifaris, M.D., Ph.D, Mary D. Sammel, Sc.D, Suneeta Senapati, M.D, M.S.C.E

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Targeted long-read sequencing identified a causal structural variant in X-linked nephrogenic diabetes insipidus by Lukáš Strych, Monika Černá, Markéta Hejnalová, Tomáš Zavoral, Pavla Komrsková, Jitka Tejcová, Ibrahim Bitar, Eva Sládková, Josef Sýkora, Ivan Šubrt

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Novel EYA4 variant in Slovak family with late onset autosomal dominant hearing loss: a case report by Lukas Varga, Daniel Danis, Martina Skopkova, Ivica Masindova, Zuzana Slobodova, Lucia Demesova, Milan Profant, Daniela Gasperikova

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The influence of delayed blastocyst development on the outcome of frozen-thawed transfer of euploid and untested embryos by Parnita Sardana, Jwal Banker, Reena Gupta, Aditi Kotdawala, P G. L. Lalitkumar, Manish BankerIntroduction

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Total Exposure Health An Introduction

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Sertoli-Leydig cell tumor associated with a germline DICER1 pathogenic variant diagnosed during pregnancy: Considerations for treatment, surveillance, and prevention by Joyce Y. Wang, Kimberly K. Ma, Daniel J. Reiter, Ana Torvie, Elizabeth M. Swisher

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Novel cutaneous manifestations of a pediatric patient with Farber lipogranulomatosis by Faris A. Alhomida, MD, Raghad Alharthi, MD, Ahmed Almutairi, MD, Dalal A. AlDosari, MD, Maee Barakeh, MD, Ahmed Dilli, MD, Maha Barakeh, MD, Asem Shadid, MD, Alhanouf Bin Dakhil, MD, Lamia AlAkrash, MD

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Charcot-Marie-Tooth Disease Subtypes and Genetics by J Gordon Millichap

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Pontocerebellar Hypoplasia Type 1 by J Gordon Millichap

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X-Linked Charcot-Marie-Tooth Disease in 93 Patients by J Gordon Millichap

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Total Exposure Health An Introduction

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A rare presentation of multiple eruptive vellus hair cysts and dystrophic nails in a pediatric patient with Stüve-Wiedemann syndrome by Nouf Almuhanna, MD, Lulwa Alogayell, MD, Sarah Alkhezzi, MD, Salman Al-Malki, MD, Rasha Alhamazani, MD, Fatimah Altassan, MD, Alanoud Alsuhibani, MD, Yazeed Alowairdhi, MD, Khalid Alekrish, MD, Faris A. Alhomida, MD

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A rare cause of mixed hypertrophic and dilated phenotype cardiomyopathy - the MELAS syndrome by Casian Mihnea, Dragotoiu Nic, Onciul Sebastian, Popescu Bogdan A., Jurcuţ Ruxandra

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