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81
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82by Nikhil Nair, Ronith Chakraborty, Zubin Mahajan, Aditya Sharma, Sidarth Sethi, Rupesh Raina“... Tuberous sclerosis complex (TSC) is a genetic condition caused by a mutation in either the TSC1...”
Published 2020-08-01
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84by Raj K Yadav, Kishore K Ariga, Arunkumar Subbiah, Soumita Bagchi, Sandeep Mahajan, Dipankar Bhowmik, Sanjay K Agarwal“...Hereditary thrombotic thrombocytopenic purpura (TTP) is a genetic condition caused by mutations...”
Published 2019-01-01
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85by Barshagul T Baikara, Elena V Zholdybayeva, Saule E Rakhimova, Nazym B Nigmatullina, Kuvat T Momynaliev, Yerlan M Ramanculov“...Alport syndrome is a genetic condition that results in hematuria, progressive renal impairment...”
Published 2015-01-01
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86by Arati Chaudhary, P V Wanzari, Tushar Phulambrikar, Vanaja Reddy, Ashish Warhekar, Prashanthi Reddy, Shivakshi Khattri“...Gardners syndrome (familial polyposis coli) is a genetic condition characterized by colonic polyps...”
Published 2010-01-01
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87by Surasak Puvabanditsin, Mehrin Sadiq, Marianne Jacob, Maaz Jalil, Kenya Cabrera, Omer Choudry, Rajeev Mehta“... novel clinical findings of this rare genetic condition....”
Published 2018-01-01
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88by Fernando Calado de Oliveira Camacho, Tânia Marina Lopes Amaral, Joana Irene de Barros Mourão“...Schwartz–Jampel syndrome (SJS) is a rare genetic condition that is characterized by several...”
Published 2018-01-01
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89by D. Hettiarachchi, B. A. P. S. Pathirana, P. J. Kumarasiri, V. H. W. Dissanayake“...The X-linked alpha-thalassemia mental retardation (ATR-X) syndrome is a rare genetic condition...”
Published 2019-01-01
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90“... of Medicine, Philadelphia, PA, USA Abstract: Progressive osseous heteroplasia (POH) is an ultrarare genetic...”
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91by Giovanni Modesto Vieira, Eduardo Jacomino Franco, Denise Falcão Pinheiro da Rocha, Laudimar Alves de Oliveira, Rivadávio Fernandes Batista Amorim“...Williams-Beuren syndrome (WBS) is a rare genetic condition that affects approximately 1 in every...”
Published 2015-02-01
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92by Ramsaroop K, Seecheran R, Seecheran V, Persad S, Giddings S, Mohammed B, Seecheran NA“... of the West Indies, St Augustine, Trinidad and Tobago Abstract: Brugada syndrome is a genetic condition...”
Published 2019-02-01
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93by Healey, Natasha“...Albinism is an uncommon genetic condition characterised by hypopigmentation of the hair, skin...”
Published 2012
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94by Mariya Levkova, Milena Stoyanova, Rada Staneva, Mari Hachmeriyan, Lyudmila Angelova“.... There are no specific dysmorphic features for this genetic condition, but micro-cephaly, micrognathia and hypertelorism...”
Published 2021-02-01
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95In a case of female-to-male sex reassignment, testosterone therapy switches on an underlying Brugada“... genetic condition characterised by an increased risk of potentially lethal ventricular arrhythmias...”
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96
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97by Yun Tao, Luciana Araripe, Sarah B Kingan, Yeyan Ke, Hailian Xiao, Daniel L Hartl“...The evolution of heteromorphic sex chromosomes creates a genetic condition favoring the invasion...”
Published 2007-11-01
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98by Jean A Rondal“...Down syndrome (DS) refers to a genetic condition due to the triplication of human chromosome 21...”
Published 2021-02-01
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99“...Background: Sickle cell disease is a genetic condition frequently found in Africa and the Arabian...”
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100by Rachel Stern, MD, Vicky Kuo, MD, Sarah Rogal, MD, MPH, Carly Barron, MD, Raidour Ahmed, MD, Bernard Goldwasser, MD“...Primary hyperoxaluria type 1 is a rare genetic condition characterized by oxalate deposition...”
Published 2020-10-01
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