Search Results - Naumchik, Irina

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  1. 1
    Expanding the genetic spectrum of the pyruvate carboxylase deficiency with novel missense, deep intronic and structural variants

    Expanding the genetic spectrum of the pyruvate carboxylase deficiency with novel missense, deep intronic and structural variants by Tsygankova, Polina, Bychkov, Igor, Minzhenkova, Marina, Pechatnikova, Natalia, Bessonova, Lyudmila, Buyanova, Galina, Naumchik, Irina, Beskorovainiy, Nikita, Tabakov, Vyacheslav, Itkis, Yulia, Shilova, Nadezhda, Zakharova, Ekaterina

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  2. 2
    Heteromorphic variants of chromosome 9

    Heteromorphic variants of chromosome 9 by Kosyakova, Nadezda, Grigorian, Ani, Liehr, Thomas, Manvelyan, Marina, Simonyan, Isabella, Mkrtchyan, Hasmik, Aroutiounian, Rouben, Polityko, Anna D, Kulpanovich, Anna I, Egorova, Tatiana, Jaroshevich, Evgenia, Frolova, Alla, Shorokh, Natalia, Naumchik, Irina V, Volleth, Marianne, Schreyer, Isolde, Nelle, Heike, Stumm, Markus, Wegner, Rolf-Dieter, Reising-Ackermann, Gisela, Merkas, Martina, Brecevic, Lukretija, Martin, Thomas, Rodríguez, Laura, Bhatt, Samarth, Ziegler, Monika, Kreskowski, Katharina, Weise, Anja, Sazci, Ali, Vorsanova, Svetlana, Cioffi, Marcelo de Bello, Ergul, Emel

    Published in Molecular cytogenetics
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  3. 3
    Paternally derived der(7)t(Y;7)(p11.1∼11.2;p22.3)dn in a mosaic case with Turner syndrome

    Paternally derived der(7)t(Y;7)(p11.1∼11.2;p22.3)dn in a mosaic case with Turner syndrome by Polityko, Anna D, Khurs, Olga M, Kulpanovich, Anna I, Mosse, Konstantin A, Solntsava, Angelica V, Rumyantseva, Natalia V, Naumchik, Irina V, Liehr, Thomas, Weise, Anja, Mkrtchyan, Hasmik

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  4. 4
    Two siblings with immunodeficiency, facial abnormalities and chromosomal instability without mutation in DNMT3B gene but liability towards malignancy; a new chromatin disorder delineation?

    Two siblings with immunodeficiency, facial abnormalities and chromosomal instability without mutation in DNMT3B gene but liability towards malignancy; a new chromatin disorder deli... by Polityko, Anna, Khurs, Olga, Rumyantseva, Natalia, Naumchik, Irina, Kosyakova, Nadezda, Tönnies, Holger, Sperling, Karl, Neitzel, Heidemarie, Weise, Anja, Liehr, Thomas

    Published in Molecular cytogenetics
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  5. 5
    Geographical Distribution, Incidence, Malignancies, and Outcome of 136 Eastern Slavic Patients With Nijmegen Breakage Syndrome and NBN Founder Variant c.657_661del5

    Geographical Distribution, Incidence, Malignancies, and Outcome of 136 Eastern Slavic Patients With Nijmegen Breakage Syndrome and NBN Founder Variant c.657_661del5 by Sharapova, Svetlana O, Pashchenko, Olga E, Bondarenko, Anastasiia V, Vakhlyarskaya, Svetlana S, Prokofjeva, Tatjana, Fedorova, Alina S, Savchak, Ihor, Mareika, Yuliya, Valiev, Timur T, Popa, Alexander, Tuzankina, Irina A, Vlasova, Elena V, Sakovich, Inga S, Polyakova, Ekaterina A, Rumiantseva, Natalia V, Naumchik, Irina V, Kulyova, Svetlana A, Aleshkevich, Svetlana N, Golovataya, Elena I, Minakovskaya, Nina V, Belevtsev, Mikhail V, Latysheva, Elena A, Latysheva, Tatiana V, Beznoshchenko, Alexander G, Akopyan, Hayane, Makukh, Halyna, Kozlova, Olena, Varabyou, Dzmitry S, Ballow, Mark, Ong, Mei-Sing, Walter, Jolan E, Kondratenko, Irina V, Kostyuchenko, Larysa V, Aleinikova, Olga V

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  6. 6
    Pallister-Killian Syndrome: Rapid Decrease of Isochromosome 12p Frequency during Amniocyte Subculturing. Conclusion for Strategy of Prenatal Cytogenetic Diagnostics

    Pallister-Killian Syndrome: Rapid Decrease of Isochromosome 12p Frequency during Amniocyte Subculturing. Conclusion for Strategy of Prenatal Cytogenetic Diagnostics by Polityko, Anna D, Goncharova, Elena, Shamgina, Ludmila, Drozdovskaja, Natalia, Podleschuk, Lubov, Abramchik, Elena, Jaroshevich, Eugenia, Khurs, Olga, Pisarik, Irina, Pribushenya, Oksana, Rumyantseva, Natalia, Naumchik, Irina

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  7. 7
    Tetrasomy 12pter-12p13.31 in a girl with partial Pallister–Killian syndrome phenotype

    Tetrasomy 12pter-12p13.31 in a girl with partial Pallister–Killian syndrome phenotype by Vermeesch, Joris Robert, Melotte, Cindy, Salden, Ivo, Riegel, Mariluce, Trifnov, Vladimir, Polityko, Anna, Rumyantseva, Natalia, Naumchik, Irina, Starke, Heike, Matthijs, Gert, Schinzel, Albert, Fryns, Jean-Pierre, Liehr, Thomas

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  8. 8
    From chromosomes to molecular karyotyping : Tetrasomy 12pter-12p13.31 in a girl with partial Pallister-Killian syficftote phenotype

    From chromosomes to molecular karyotyping : Tetrasomy 12pter-12p13.31 in a girl with partial Pallister-Killian syficftote phenotype by VERMEESCH, Joris Robert, MELOTTE, Cindy, SCHINZEL, Albert, FRYNS, Jean-Pierre, LIEHR, Thomas, SALDEN, Ivo, RIEGEL, Mariluce, TRIFNOV, Vladimir, POLITYKO, Anna, RUMYANTSEVA, Natalia, NAUMCHIK, Irina, STARKE, Heike, MATTHIJS, Gert

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