Search Results - "albinism"

Mapping a research-advocacy-policy agenda on human rights and albinism: a mixed methods project by Sheryl Reimer-Kirkham, Barbara Astle, Ikponwosa Ero, Lori Beaman, Bonny Ibhawoh, Elvis Imafidon, Richard Sawatzky, Wisdom Tettey, Meghann Buyco, Emma Strobell

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Successful treatment of retinopathy of prematurity in oculocutaneous albinism with OCA2 variants: a case report and review of literature by Xiao-Yu Zheng, Ding-Wen Wu, Lan Yu, Zheng-Yan Zhao

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A Successful Case for Deselection of Albino Embryo and Live Birth of Albinism-Free Healthy Baby Followed by PGT-M by Nayana Patel, Harsha K Bhadarka, Salil Vaniawala, Arpita Patel

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Overexpression of the gene product of ocular albinism 1 (GPR143/OA1) but not its mutant forms inhibits neurite outgrowth in PC12 cells by Daiki Masukawa, Kaisei Yamada, Yoshio Goshima

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Novel compound heterozygous mutations in OCA2 gene associated with non-syndromic oculocutaneous albinism in a Chinese Han patient: a case report by Hairong Wang, Yang Wan, Yun Yang, Hao Li, Liangwei Mao, Shuyang Gao, Jingjing Xu, Jing Wang

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Novel deletion of exon 3 in TYR gene causing Oculocutaneous albinism 1B in an Indian family along with intellectual disability associated with chromosomal copy number variations by Somprakash Dhangar, Purvi Panchal, Jagdeeshwar Ghatanatti, Jitendra Suralkar, Anjali Shah, Babu Rao Vundinti

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Correction to: Novel deletion of exon 3 in TYR gene causing Oculocutaneous albinism 1B in an Indian family along with intellectual disability associated with chromosomal copy number variations by Somprakash Dhangar, Purvi Panchal, Jagdeeshwar Ghatanatti, Jitendra Suralkar, Anjali Shah, Babu Rao Vundinti

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Suscetibilidade de Biomphalaria glabrata, variante albina, oriunda de Belo Horizonte, MG, à infecção por Schistosoma mansoni, parasita em condições naturais, de roedores silvestres do Vale do Rio Paraíba do Sul, SP (Brasil) Susceptibility of an albinic variant of Biomphalaria glabrata from Belo Horizonte (MG), to infection by Schistosoma mansoni, from wild rodents of the Paraíba do Sul River Valley by Othon de Carvalho Bastos, Ana Maria Aparecida Guaraldo, Luiz Augusto Magalhães

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Re: Bonde JPE, Sell L, Flachs EM, Coggon D, Albin M, Hengel KMO, Kolstad H, Mehlum IS, Schlünssen V, Solovieva S, Torén K, Jakobsson K, Nielsen C, Nilsson K, Rylander L, Petersen KU, Tøttenborg SS.... by Jens Peter Ellekilde Bonde, Lea Sell, Esben Meulengracht Flachs, David Coggon, Maria Albin, Karen M Oude Hengel, Henrik Kolstad, Ingrid Sivesind Mehlum, Vivi Schlünssen, Svetlana Solovieva, Kjell Torén, Kristina Jakobsson, Christel Nielsen, Kerstin Nilsson, Lars Rylander, Kajsa Ugelvig Petersen, Sandra Søgaard Tøttenborg

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Optical Coherence Tomography for the Identification of a Rare Case of Keratoconus in Albino Donor Cornea by Hossein Mostafa Elbadawy, Alessandro Ruzza, Mohit Parekh, Davide Camposampiero, Marina De Rossi, Sandro Sbordone, Stefano Ferrari, Diego Ponzin

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Malignant transformation of actinic keratoses to squamous cell carcinoma in an albino by Ramalingam Vijaya, Sinnakirouchenan Ramapriya, Thappa Devinder

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Hermansky-Pudlak syndrome by Prabodh Panchadhyayee, Arnab Saha, Kaushik Saha, Rupam Kumar Ta, Pratik Barma

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Hermansky-Pudlak syndrome by Prabodh Panchadhyayee, Arnab Saha, Kaushik Saha, Rupam Kumar Ta, Pratik Barma

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Hermansky-Pudlak Syndrome Type 6 Accompanied with Bowel Vascular Malformation: Clinical Case by Natalia V. Zhurkova, Nato D. Vashakmadze, Natella V. Suhanova, Grigorii V. Revunenekov, Olga B. Gordeeva, Maria V. Egorova, Dmitriy S. Ovchinnikov, Vitaliy V. Kadyshev, Rena A. Zhinchenko, Leyla S. Namazova-Baranova

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Chédiak-Higashi syndrome by Javad Ghaffari, Seyed Abdolrahim Rezaee, Mohammad Gharagozlou

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Chédiak-Higashi syndrome by Javad Ghaffari, Seyed Abdolrahim Rezaee, Mohhammad Gharagozlou

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A Study On The Frequency Of Different Types Of Optical Low Vision Aids Prescribed For Low Vision Patients Examined In The Clinic Of Optometry, Faculty Of Rehabilitation Sciences Sh... by Mohammad Ghassemi Broumand, Mohsen akhgary, Seyed Mehdi Tabatabaee, Mohammad Aghazadeh Amiri, Azam Karimi

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Childhood actinic keratosis in an albino transforming into squamous cell carcinoma by Shubhangi V Agale, Grace F D'Costa, Bhavana M Bharambe, Varsha Bhatia

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Adult siblings with homozygous <it>G6PC3</it> mutations expand our understanding of the severe congenital neutropenia type 4 (SCN4) phenotype by Fernandez Bridget A, Green Jane S, Bursey Ford, Barrett Brendan, MacMillan Andrée, McColl Sarah, Fernandez Sara, Rahman Proton, Mahoney Krista, Pereira Sergio L, Scherer Stephen W, Boycott Kym M, Woods Michael O

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Você conhece esta síndrome? Do you know this syndrome? by Erick Dancuart Omar, Zilda Najjar Prado de Oliveira, Maria Cecília Machado-Rivitti

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