Impact of socio-demographic structure of the deaf people communities in prevalence of hereditary hearing loss by O. L. Posukh, M. S. Bady-Khoo, M. V. Zytsar, V. Yu. Mikhalskaia, S. A. Lashin, N. A. Barashkov, G. P. Romanov

Subjects: “…hereditary deafness…”
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An exploratory study to evaluate efficacy and safety of frequent Transcutaneous Electrical Stimulation for Leber Hereditary Optic Neuropathy by Fumio Takano, Kaori Ueda, Takuji Kurimoto, Mina Arai, Takayuki Nagai, Yuko Yamada-Nakanishi, Makoto Nakamura

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Differential Diagnosis of MutYH-Associated Polyposis from Sporadic Colon Polyps by A. S. Tsukanov, V. P. Shubin, A. M. Kuzminov, M. Kh. Toboeva, T. A. Savelyeva, V. N. Kashnikov, Yu. A. Shelygin

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Clinical characteristics of hereditary spherocytosis with red blood cell membrane protein gene variants by Jingying Cheng, Liqiang Zhang, Jiafeng Yao, Shasha Zhao, Jin Jiang

Subjects: “…hereditary spherocytosis…”
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Germline BRCA testing in Denmark following invasive breast cancer: Progress since 2000 by Aleksandar M. Kostov, Maj-Britt Jensen, Bent Ejlertsen, Mads Thomassen, Caroline Maria Rossing, Inge S. Pedersen, Annabeth H. Petersen, Lise Lotte Christensen, Karin A.W. Wadt, Anne-Vibeke Lænkholm

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Uncovering a novel SERPING1 pathogenic variant: insights into the aggregation of C1-INH in hereditary angioedema by Lingxi Jiang, Chao Dai, Suyang Duan, Tingting Wang, Chunbao Xie, Luhan Zhang, Zimeng Ye, Xiumei Ma, Yi Shi

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Indirect treatment comparison of lanadelumab and a C1-esterase inhibitor in pediatric patients with hereditary angioedema by Maureen Watt, Rachel Goldgrub, Mia Malmenas, Katrin Haeussler

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Pulmonary arteriovenous malformation causing lung sequestration and media infarction: a case report by Raffaella Griffo, Laura V. Klotz, Laura V. Klotz, Lena Brendel, Romina Rösch, Benedikt Niedermaier, Kai Schlamp, Mark Kriegsmann, Mark Kriegsmann, Martin M. Eichhorn, Martin M. Eichhorn, Hauke Winter, Hauke Winter

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De Novo or inherited: gonosomal mosaicism in hereditary angioedema due to C1 inhibitor deficiency by Laura Batlle-Masó, Laura Batlle-Masó, Laura Batlle-Masó, Janire Perurena-Prieto, Janire Perurena-Prieto, Janire Perurena-Prieto, Laura Viñas-Giménez, Laura Viñas-Giménez, Laura Viñas-Giménez, Aina Aguiló-Cucurull, Aina Aguiló-Cucurull, Paula Fernández-Álvarez, Johana Gil-Serrano, Johana Gil-Serrano, Johana Gil-Serrano, Mar Guilarte, Mar Guilarte, Mar Guilarte, Roger Colobran, Roger Colobran, Roger Colobran, Roger Colobran

Subjects: “…hereditary angioedema…”
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Mitochondrial transplantation: a promising strategy for the treatment of retinal degenerative diseases by Jing Chi, Bin Fan, Yulin Li, Qing Jiao, Guang-Yu Li

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A transgenic cell line with inducible transcription for studying (CGG)n repeat expansion mechanisms by I. V. Grishchenko, A. A. Tulupov, Y. M. Rymareva, E. D. Petrovskiy, A. A. Savelov, A. M. Korostyshevskaya, Y. V. Maksimova, A. R. Shorina, E. M. Shitik, D. V. Yudkin

Subjects: “…hereditary intellectual disability…”
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TP53 germline testing and hereditary cancer: how somatic events and clinical criteria affect variant detection rate by Paula Rofes, Carmen Castillo-Manzano, Mireia Menéndez, Álex Teulé, Sílvia Iglesias, Elisabet Munté, Mireia Ramos-Muntada, Carolina Gómez, Eva Tornero, Esther Darder, Eva Montes, Laura Valle, Gabriel Capellá, Marta Pineda, Joan Brunet, Lidia Feliubadaló, Jesús del Valle, Conxi Lázaro

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Vascular malformations of the lungs and the liver at patient with hereditary hemorrhagic teleangiectasia by M. S. Zharkova, A. V. Lapshin, Ye. N. German, M. V. Mayevskaya, I. A. Sokolina, V. T. Ivashkin

Subjects: “…hereditary hemorrhagic teleangiectasia…”
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Prognostic factors in hereditary breast cancer: A review by Ziske Maritska, Sarmoko

Subjects: “…hereditary breast cancer…”
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Evaluation of common COL2A1 gene variants in Iranian patients suspected with Stickler syndrome type I by Fatemeh Abolhasani, Hossein Abdali, Mohammad Kazemi, Bijan Movahedian Attar, Fatemeh Derakhshandeh, Majid Hosseinzadeh

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