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| Issue |
Title |
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| Vol 17, No 7 (2018) |
AQP5 MUTATION AS A CAUSE OF PALMOPLANTAR KERATODERMA IN A RUSSIAN FAMILY |
Abstract
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O. A. Shchagina, V. P. Fedotov, T. V. Fedotova, A. V. Polyakov |
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| Vol 17, No 3 (2018) |
Clinical case of a rare organic aciduria |
Abstract
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E. R. Eremina |
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| Vol 18, No 9 (2019) |
A case of Emanuel syndrome on a newborn girl with congenital heart defect |
Abstract
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V. G. Antonenko, D. V. Svetlychnaya, N. V. Djurcova, N. A. Haritonova, N. V. Shilova |
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| Vol 17, No 4 (2018) |
The first case of Danon disease in Belarus, diagnosed by targeted NGS |
Abstract
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L. N. Sivitskaya, T. G. Vaikhanskaya, N. G. Danilenko, O. D. Liaudanski, T. V. Kurushka, O. G. Davydenko |
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| Vol 18, No 9 (2019) |
Ring chromosome 3 instability at mitosis |
Abstract
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N. V. Shilova, M. E. Minzhenkova, Zh. G. Markova, A. A. Tarlycheva, D. A. Yurchenko |
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| Vol 16, No 5 (2017) |
A case of 8p and 18p genetic imbalance in a female patient without pronounced physical and mental abnormalities |
Abstract
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A. A. Pendina, O. A. Efimova, O. G. Chiryaeva, O. V. Malysheva, V. S. Dudkina, L. I. Petrova, P. A. Pavlova, A. V. Tikhonov, M. I. Krapivin, A. S. Koltsova, S. E. Parfenyev, E. A. Serebryakova, E. S. Shabanova |
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| Vol 17, No 5 (2018) |
Analysis of pedigrees with a non-syndromic sensorineural hearing loss in assortative marriages |
Abstract
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N. E. Petrina, R. A. Zinchenko, V. L. Izhevskaya, A. V. Marakhonov, E. A. Bliznetz, N. A. Petrova, T. A. Vasilyeva, A. V. Polyakov, E. K. Ginter |
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| Vol 20, No 12 (2021) |
AZFb region deletions of Y chromosome in oligozoospermic patient: clinical case and review |
Abstract
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A. I. Ryzhkov, I. S. Shormanov, M. M. Vorchalov, S. Y. Sokolova, A. V. Dybin, V. B. Chernykh |
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| Vol 16, No 5 (2017) |
Two CYP21A2 mutations in trans-configuration were identified in the fetus without congenital adrenal hyperplasia (CAH). A case of prenatal diagnosis |
Abstract
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N. S. Osinovskaya, I. Yu. Sultanov |
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| Vol 17, No 6 (2018) |
A rare case of familial adenomatous polyposis |
Abstract
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T. A. Muzaffarova, D. J. Mansorunov, F. M. Kipkeeva, A. A. Alimov, A. V. Karpukhin |
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| Vol 16, No 7 (2017) |
Inborn disorders of tetrahydrobiopterin metabolism: clinical features and diagnosis |
Abstract
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N. A. Pichkur, N. V. Ol`khovich, N. S. Trofimova |
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| Vol 17, No 8 (2018) |
Family case of rare Charcot-Marie-Tooth 2P disease caused by LRSAM1 mutation |
Abstract
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O. A. Shchagina, E. L. Dadali, V. P. Fedotov, O. P. Ryzhkova, A. L. Chucrova, T. B. Milovidova, A. V. Polyakov |
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| Vol 16, No 7 (2017) |
The description of the clinical case of Nicolaides-Baraitser syndrome caused by mutations in the SMARCA2 gene |
Abstract
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E. L. Dadali, I. A. Akimova, F. A. Konovalov, M. A. Ampleeva, O. A. Shchagina |
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| Vol 17, No 8 (2018) |
Clinical and genetics characterisics of the Adams-Oliver syndrome (AOS) 2 new allelic variant |
Abstract
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T. V. Markova, I. A. Akimova, A. L. Chukhromova, O. A. Schagina, E. L. Dadali |
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| Vol 16, No 8 (2017) |
A rare case of Xq rearrangement - inverted duplication/deletion in a woman with gonadal dysgenesis |
Abstract
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V. G. Antonenko, Zh. G. Markova, N. V. Shilova, A. V. Glazkova, Yu. V. Tsayuk, O. V. Petrova |
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| Vol 16, No 8 (2017) |
Analysis of the unusual morphology of the chromosome 21 in chorion for the non-developing pregnancy |
Abstract
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T. V. Karamysheva, T. A. Gayner, O. G. Karimova, A. G. Bogomolov, N. B. Rubtsov |
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| Vol 17, No 10 (2018) |
Congenital myasthenic syndrome with respiratory failure type 20 |
Abstract
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T. V. Kozhanova, S. S. Zhilina, T. I. Mescheryakova, M. Yu. Shorina, I. F. Demenshin, G. G. Prokopiev, A. G. Prityko |
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| Vol 16, No 8 (2017) |
Description of a clinical case of syndrome of mental retardation, X-linked 102, caused by a mutation in the gene DDX3X |
Abstract
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G. N. Matyushchenko, I. V. Anisimova |
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| Vol 17, No 10 (2018) |
Mosaic unbalanced translocations de novo: diagnosis of two clinical cases and review of the literature |
Abstract
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M. E. Minzhenkova, Z. G. Markova, N. Y. Kuzina, M. S. Petuhova, G. N. Matushenko, N. V. Shilova |
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| Vol 16, No 9 (2017) |
Clinical and molecular characteristics of oculodentodigital dysplasia |
Abstract
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G. E. Rudenskaya, E. A. Bliznetz, N. A. Dyomina, O. V. Khlebnikova, E. L. Dadaly, A. V. Polyakov |
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| Vol 17, No 11 (2018) |
Novel deletion imprinting region14q32.2 in a patient with Kagami-Ogata syndrome |
Abstract
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N. A. Semenova, I. V. Anisimova, I. V. Volodin, A. V. Stupina, A. T. Abdraisova, I. B. Tsokova, S. A. Basharin |
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| Vol 16, No 9 (2017) |
The description of the clinical case of KBG-syndrome caused by previously not described mutation in the ANKRD11 gene |
Abstract
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I. A. Akimova, E. L. Dadali, S. A. Korostelev, D. N. Khemlkova, F. A. Konovalov |
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| Vol 17, No 11 (2018) |
Family dilated cardiomyopathy case associated with mutation in the splicing factor gene RBM20 |
Abstract
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L. N. Sivitskaya, T. G. Vaikhanskaya, A. D. Liaudanski, T. V. Kurushka, N. G. Danilenko |
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| Vol 16, No 10 (2017) |
Rare copy number variations: maternal microduplication 20p13 region in a patient with complex heart disease and bronchial anomaly |
Abstract
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A. A. Slepukhina, N. A. Skryabin, A. A. Kashevarova, M. A. Novikova, G. I. Lifshits, I. N. Lebedev |
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| Vol 17, No 11 (2018) |
A rare germline allelic variant с.2657 G>A (p.Arg886Gln) in the RET protooncogene in a patient with medullary thyroid carcinoma |
Abstract
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F. A. Amosenko, N. V. Ryadninskaya, A. N. Loginova, A. V. Polyakov |
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| Vol 16, No 10 (2017) |
Modern opportunities of medical care in a family with hereditary disease: a case report |
Abstract
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L. V. Liazina, N. N. Bodioul, N. V. Vochkmianina, A. G. Efimova, E. A. Serebryakova, T. E. Ivashchenko, O. S. Glotov, A. S. Glotov, O. V. Romanova, M. L. Kuranova, A. A. Vasilishina, E. N. Suspitsin, A. V. Mikhailov, A. M. Sarana, S. G. Shcherbak, V. S. Baranov |
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| Vol 17, No 12 (2018) |
Krabbe disease with juvenile onset: A case report |
Abstract
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E. P. Nuzhnyi, R. N. Konovalov, G. E. Rudenskaya, E. Y. Zakharova, S. N. Illarioshkin |
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| Vol 16, No 11 (2017) |
Coincidence of two rare neurologic diseases detected by panel next-generation sequencing |
Abstract
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G. E. Rudenskaya, A. O. Shumarina, A. V. Antonets, I. G. Sermyagina, T. D. Krylova, O. A. Shchagina |
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| Vol 18, No 1 (2019) |
Contiguous gene syndrome in severe case of mucopolysaccharidosis type II |
Abstract
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N. A. Polyakova, E. Yu. Voskoboeva, I. V. Kanivets, S. A. Korostelev, V. S. Kakaulina, N. L. Pechatnikova |
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| Vol 16, No 11 (2017) |
X-linked intellectual disability (Cantagrel type) in girl: clinical case from practice |
Abstract
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T. V. Kozhanova, S. S. Zhilina, T. I. Mescheryakova, N. P. Prokop`eva, K. V. Osipova, S. O. Aivazyan, I. V. Kanivets, F. A. Konovalov, E. R. Tolmacheva, F. A. Koshkin, A. G. Prityko |
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| Vol 18, No 2 (2019) |
Новая гомозиготная мутация в гене ARL6IP1 - второй случай редкой спастической параплегии |
Abstract
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A. L. Chukhrova, I. A. Akimova, , V. A. Kadnikova, O. P. Ryzhkova, A. V. Polyakov |
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| Vol 16, No 11 (2017) |
Interpretation of a patient`s phenotype using a complex of molecular cytogenetic methods |
Abstract
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A. A. Kashevarova, E. O. Belyaeva, A. M. Nikonov, O. V. Plotnikova, I. G. Gergert, T. V. Nikitina, N. A. Skryabin, S. A. Vasilyev, M. E. Lopatkina, A. V. Churilova, E. N. Tolmacheva, L. P. Nazarenko, I. N. Lebedev |
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| Vol 18, No 7 (2019) |
Levy-Shanske syndrome: mosaic tetrasomy 15q25.3→qter and review of the literature |
Abstract
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M. E. Minzhenkova, Z. G. Markova, N. A. Demina, A. A. Tarlycheva, I. V. Kanivets, N. V. Shilova |
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