Di Donato, Nataliya: search on Z-Library

The world's largest scientific articles store. 70,000,000+ articles for free.

Don't use scam websites

1

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

Anita Rauch, Dagmar Wieczorek, Elisabeth Graf, Thomas Wieland, Sabine Endele, Thomas Schwarzmayr, Beate Albrecht, Deborah Bartholdi, Jasmin Beygo, Nataliya Di Donato, Andreas Dufke, Kirsten Cremer, Ma

Journal:

Year:

2012

Language:

english

File:

PDF, 249 KB

english, 2012

2

Clinical phenotypes ofMAGEL2mutations and deletions

Buiting, Karin, Di Donato, Nataliya, Beygo, Jasmin, Bens, Susanne, von der Hagen, Maja, Hackmann, Karl, Horsthemke, Bernhard

Journal:

Orphanet Journal of Rare Diseases

Year:

2014

Language:

english

File:

PDF, 330 KB

english, 2014

3

Microduplications of 3p26.3p26.2 containing CRBN gene in patients with intellectual disability and behavior abnormalities

Papuc, Sorina M., Hackmann, Karl, Andrieux, Joris, Vincent-Delorme, Catherine, Budişteanu, Magdalena, Arghir, Aurora, Schrock, Evelin, Ţuţulan-Cuniţă, Andreea C., Di Donato, Nataliya

Journal:

European Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 860 KB

english, 2015

4

Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria

Ravenscroft, Gianina, Di Donato, Nataliya, Hahn, Gabriele, Davis, Mark R, Craven, Paul D, Poke, Gemma, Neas, Katherine R, Neuhann, Teresa M, Dobyns, William B, Laing, Nigel G

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 688 KB

english, 2016

5

Lissencephaly: Expanded imaging and clinical classification

Di Donato, Nataliya, Chiari, Sara, Mirzaa, Ghayda M., Aldinger, Kimberly, Parrini, Elena, Olds, Carissa, Barkovich, A. James, Guerrini, Renzo, Dobyns, William B.

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 6.64 MB

english, 2017

6

Pierpont syndrome

Kahlert, Anne-Karin, Weidensee, Sabine, Mackenroth, Luisa, Porrmann, Joseph, Rump, Andreas, Di Donato, Nataliya, Schröck, Evelin, Tzschach, Andreas

Journal:

Clinical Dysmorphology

Year:

2017

Language:

english

File:

PDF, 108 KB

english, 2017

7

Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay

Lee, Sangmoon, Chen, Dillon Y., Zaki, Maha S., Maroofian, Reza, Houlden, Henry, Di Donato, Nataliya, Abdin, Dalia, Morsy, Heba, Mirzaa, Ghayda M., Dobyns, William B., McEvoy-Venneri, Jennifer, Stanley

Journal:

The American Journal of Human Genetics

Year:

2019

Language:

english

File:

PDF, 1.71 MB

english, 2019

8

Targeted and Genomewide NGS Data Disqualify Mutations in MYO1A , the “ DFNA48 Gene”, as a Cause of Deafness

Eisenberger, Tobias, Di Donato, Nataliya, Baig, Shahid M., Neuhaus, Christine, Beyer, Anke, Decker, Eva, Mürbe, Dirk, Decker, Christian, Bergmann, Carsten, Bolz, Hanno J.

Journal:

Year:

2014

Language:

english

File:

PDF, 411 KB

english, 2014

9

De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability - further delineation of the 6q14 microdeletion syndrome and review of the literature

Becker, Kerstin, Di Donato, Nataliya, Holder-Espinasse, Muriel, Andrieux, Joris, Cuisset, Jean-Marie, Vallée, Louis, Plessis, Ghislaine, Jean, Nolwenn, Delobel, Bruno, Thuresson, Ann-Charlotte, Anneré

Journal:

European Journal of Medical Genetics

Year:

2012

Language:

english

File:

PDF, 739 KB

english, 2012

10

Females with de novo aberrations in PHF6 : Clinical overlap of Borjeson-Forssman-Lehmann with Coffin-Siris syndrome

Zweier, Christiane, Rittinger, Olaf, Bader, Ingrid, Berland, Siren, Cole, Trevor, Degenhardt, Franziska, Di Donato, Nataliya, Graul-Neumann, Luitgard, Hoyer, Juliane, Lynch, Sally Ann, Vlasak, Ingrid,

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Year:

2014

Language:

english

File:

PDF, 1.95 MB

english, 2014

11

Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases

Verloes, Alain, Di Donato, Nataliya, Masliah-Planchon, Julien, Jongmans, Marjolijn, Abdul-Raman, Omar A, Albrecht, Beate, Allanson, Judith, Brunner, Han, Bertola, Debora, Chassaing, Nicolas, David, Al

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 1.51 MB

english, 2015

12

Next-generation sequencing in X-linked intellectual disability

Tzschach, Andreas, Grasshoff, Ute, Beck-Woedl, Stefanie, Dufke, Claudia, Bauer, Claudia, Kehrer, Martin, Evers, Christina, Moog, Ute, Oehl-Jaschkowitz, Barbara, Di Donato, Nataliya, Maiwald, Robert, J

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 271 KB

english, 2015

13

Mammalian cadherins DCHS1-FAT4 affect functional cerebral architecture

Beste, Christian, Ocklenburg, Sebastian, von der Hagen, Maja, Di Donato, Nataliya

Journal:

Brain Structure and Function (Anatomy and Embryology 1891-2006)

Year:

2016

Language:

english

File:

PDF, 1.08 MB

english, 2016

14

Partial deletion of GLRB and GRIA2 in a patient with intellectual disability

Hackmann, Karl, Matko, Sarah, Gerlach, Eva-Maria, von der Hagen, Maja, Klink, Barbara, Schrock, Evelin, Rump, Andreas, Di Donato, Nataliya

Journal:

European Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 469 KB

english, 2013

15

Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt

Di Donato, Nataliya, Neuhann, Teresa, Kahlert, Anne-Karin, Klink, Barbara, Hackmann, Karl, Neuhann, Irmingard, Novotna, Barbora, Schallner, Jens, Krause, Claudia, Glass, Ian A, Parnell, Shawn E, Benet

Journal:

Journal of Medical Genetics

Year:

2016

Language:

english

File:

PDF, 711 KB

english, 2016

16

Novel Mutation in the DKC1 Gene: Neonatal Hoyeraal-Hreidarsson Syndrome As a Rare Differential Diagnosis in Pontocerebellar Hypoplasia, Primary Microcephaly, and Progressive Bone Marrow Failure

Dehmel, Maria, Brenner, Sebastian, Suttorp, Meinolf, Hahn, Gabriele, Schützle, Heike, Dinger, Jürgen, Di Donato, Nataliya, Mackenroth, Luisa, von der Hagen, Maja

Journal:

Neuropediatrics

Year:

2016

Language:

english

File:

PDF, 135 KB

english, 2016

17

6q22.33 microdeletion in a family with intellectual disability, variable major anomalies, and behavioral abnormalities

Mackenroth, Luisa, Hackmann, Karl, Beyer, Anke, Schallner, Jens, Novotna, Barbara, Klink, Barbara, Schröck, Evelin, Di Donato, Nataliya

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 450 KB

english, 2015

18

A child with Li-Fraumeni syndrome: Modes to inactivate the second allele of TP53 in three different malignancies

Schlegelberger, Brigitte, Kreipe, Hans, Lehmann, Ulrich, Steinemann, Doris, Ripperger, Tim, Göhring, Gudrun, Thomay, Kathrin, Rump, Andreas, Di Donato, Nataliya, Suttorp, Meinolf

Journal:

Pediatric Blood & Cancer

Year:

2015

Language:

english

File:

PDF, 993 KB

english, 2015

19

Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of “ PIK3CA -Related Overgrowth Spectrum”

Di Donato, Nataliya, Rump, Andreas, Mirzaa, Ghayda M., Alcantara, Diana, Oliver, Antony, Schrock, Evelin, Dobyns, William B., O'Driscoll, Mark

Journal:

Year:

2016

Language:

english

File:

PDF, 505 KB

english, 2016

20

Update on the ACTG1 -associated Baraitser-Winter cerebrofrontofacial syndrome

Di Donato, Nataliya, Kuechler, Alma, Velgano, Samantha, Heinritz, Wolfram, Bodurtha, Joann, Merchant, Sabiha R., Breningstall, Galen, Ladda, Roger, Sell, Susan, Altmüller, Janine, Bögershausen, Nina,

Journal:

American Journal of Medical Genetics Part A

Year:

2016

Language:

english

File:

PDF, 619 KB

english, 2016

21

Ready to clone: CNV detection and breakpoint fine-mapping in breast and ovarian cancer susceptibility genes by high-resolution array CGH

Hackmann, Karl, Kuhlee, Franziska, Betcheva-Krajcir, Elitza, Kahlert, Anne-Karin, Mackenroth, Luisa, Klink, Barbara, Di Donato, Nataliya, Tzschach, Andreas, Kast, Karin, Wimberger, Pauline, Schrock, E

Journal:

Breast Cancer Research and Treatment

Year:

2016

Language:

english

File:

PDF, 1.06 MB

english, 2016

22

Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant

Di Donato, Nataliya, Jean, Ying Y., Maga, A. Murat, Krewson, Briana D., Shupp, Alison B., Avrutsky, Maria I., Roy, Achira, Collins, Sarah, Olds, Carissa, Willert, Rebecca A., Czaja, Agnieszka M., John

Journal:

The American Journal of Human Genetics

Year:

2016

Language:

english

File:

PDF, 1.32 MB

english, 2016

23

Constitutional de novo and postzygotic mutations in isolated cases of cerebral cavernous malformations

Rath, Matthias, Spiegler, Stefanie, Nath, Neetika, Schwefel, Konrad, Di Donato, Nataliya, Gerber, Johannes, Korenke, G. Christoph, Hellenbroich, Yorck, Hehr, Ute, Gross, Stephanie, Sure, Ulrich, Zoll,

Journal:

Molecular Genetics & Genomic Medicine

Year:

2017

Language:

english

File:

PDF, 1.13 MB

english, 2017

24

Central nervous system anomalies in two females with Borjeson-Forssman-Lehmann syndrome

Kasper, Burkhard S., Dörfler, Arnd, Di Donato, Nataliya, Kasper, Ekkehard M., Wieczorek, Dagmar, Hoyer, Juliane, Zweier, Christiane

Journal:

Epilepsy & Behavior

Year:

2017

Language:

english

File:

PDF, 1.13 MB

english, 2017

25

Functional monosomy of 6q27-qter and functional disomy of Xpter-p22.11 due to X;6 translocation with an atypical X-inactivation pattern

Podolska, Anna, Kobelt, Albrecht, Fuchs, Sigrid, Hackmann, Karl, Rump, Andreas, Schröck, Evelin, Kutsche, Kerstin, Di Donato, Nataliya

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 1.31 MB

english, 2017

26

Novel PRPS1 gain-of-function mutation in a patient with congenital hyperuricemia and facial anomalies

Porrmann, Joseph, Betcheva-Krajcir, Elitza, Di Donato, Nataliya, Kahlert, Anne-Karin, Schallner, Jens, Rump, Andreas, Schröck, Evelin, Dobritzsch, Doreen, Roelofsen, Jeroen, van Kuilenburg, André B. P

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 931 KB

english, 2017

27

Skewed X-inactivation in a family with DLG3- associated X-linked intellectual disability

Gieldon, Laura, Mackenroth, Luisa, Betcheva-Krajcir, Elitza, Rump, Andreas, Beck-Wödl, Stefanie, Schallner, Jens, Di Donato, Nataliya, Schröck, Evelin, Tzschach, Andreas

Journal:

American Journal of Medical Genetics Part A

Year:

2017

Language:

english

File:

PDF, 617 KB

english, 2017

28

A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73

Eisenberger, Tobias, Di Donato, Nataliya, Decker, Christian, Delle Vedove, Andrea, Neuhaus, Christine, Nürnberg, Gudrun, Toliat, Mohammad, Nürnberg, Peter, Mürbe, Dirk, Bolz, Hanno Jörn

Journal:

Genetics in Medicine

Year:

2017

Language:

english

File:

PDF, 1.37 MB

english, 2017

29

Variable clinical phenotype in two siblings with Aicardi-Goutières syndrome type 6 and a novel mutation in the ADAR gene

Schmelzer, Lisa, Smitka, Martin, Wolf, Christine, Lucas, Nadja, Tüngler, Victoria, Hahn, Gabriele, Tzschach, Andreas, Di Donato, Nataliya, Lee-Kirsch, Min Ae, von der Hagen, Maja

Journal:

European Journal of Paediatric Neurology

Year:

2017

Language:

english

File:

PDF, 598 KB

english, 2017

30

Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly

Di Donato, Nataliya, Timms, Andrew E, Aldinger, Kimberly A, Mirzaa, Ghayda M, Bennett, James T, Collins, Sarah, Olds, Carissa, Mei, Davide, Chiari, Sara, Carvill, Gemma, Myers, Candace T, Rivière, Jea

Journal:

Genetics in Medicine

Year:

2018

Language:

english

File:

PDF, 1.47 MB

english, 2018

31

Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1

Brock, Stefanie, Stouffs, Katrien, Scalais, Emmanuel, D’Hooghe, Marc, Keymolen, Kathelijn, Guerrini, Renzo, Dobyns, William B., Di Donato, Nataliya, Jansen, Anna C.

Journal:

European Journal of Human Genetics

Year:

2018

Language:

english

File:

PDF, 3.35 MB

english, 2018

32

Genetik der kortikalen Fehlbildungen; Genetics of malformations in cortical development;

Di Donato, Nataliya

Journal:

medizinische genetik

Year:

2018

Language:

german

File:

PDF, 2.78 MB

german, 2018

33

Novel truncating PPM1D mutation in a patient with intellectual disability

Porrmann, Joseph, Rump, Andreas, Hackmann, Karl, Di Donato, Nataliya, Kahlert, Anne-Karin, Wagner, Johannes, Jahn, Arne, Eger, Ines, Flury, Monika, Schrock, Evelin, Tzschach, Andreas, Gieldon, Laura

Journal:

European Journal of Medical Genetics

Year:

2018

Language:

english

File:

PDF, 775 KB

english, 2018

34

Novel VPS33B mutation in a patient with autosomal recessive keratoderma-ichthyosis-deafness syndrome

Alter, Svenja, Hotz, Alrun, Jahn, Arne, Di Donato, Nataliya, Schröck, Evelin, Smitka, Martin, von der Hagen, Maja, Schallner, Jens, Menschikowski, Mario, Gillitzer, Claus, Laass, Martin W., Fischer, J

Journal:

American Journal of Medical Genetics Part A

Year:

2018

Language:

english

File:

PDF, 1.80 MB

english, 2018

35

Parental mosaicism in epilepsies due to alleged de novo variants

Møller, Rikke S., Liebmann, Nora, Larsen, Line H. G., Stiller, Mathias, Hentschel, Julia, Kako, Nahrain, Abdin, Dalia, Di Donato, Nataliya, Pal, Deb K., Zacher, Pia, Syrbe, Steffen, Dahl, Hans A., Lem

Journal:

Year:

2019

Language:

english

File:

PDF, 260 KB

english, 2019

36

De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders

Dulovic-Mahlow, Marija, Trinh, Joanne, Kandaswamy, Krishna Kumar, Braathen, Geir Julius, Di Donato, Nataliya, Rahikkala, Elisa, Beblo, Skadi, Werber, Martin, Krajka, Victor, Busk, Øyvind L., Baumann,

Journal:

The American Journal of Human Genetics

Year:

2019

Language:

english

File:

PDF, 1020 KB

english, 2019

37

Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay

Lee, Sangmoon, Chen, Dillon Y., Zaki, Maha S., Maroofian, Reza, Houlden, Henry, Di Donato, Nataliya, Abdin, Dalia, Morsy, Heba, Mirzaa, Ghayda M., Dobyns, William B., McEvoy-Venneri, Jennifer, Stanley

Journal:

The American Journal of Human Genetics

Year:

2019

File:

PDF, 1.71 MB

2019

38

Novel dominant-negative NR2F1 frameshift mutation and a phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndrome

Walsh, Sonja, GÃ¶sswein, Sophie Scarlett, Rump, Andreas, Hagen, Maja von der, Hackmann, Karl, SchrÃ¶ck, Evelin, Di Donato, Nataliya, Kahlert, Anne-Karin

Journal:

European Journal of Medical Genetics

Year:

2020

File:

PDF, 751 KB

2020

39

Congenital hiatal hernia segregating with a duplication in 9q22.31q22.32 in two families

Chang, Caitlin A., Di Donato, Nataliya, Hackmann, Karl, Argiropoulos, Bob, Ferreira, Patrick, Innes, A. Micheil, Thomas, Mary Ann

Journal:

American Journal of Medical Genetics Part A

Year:

2020

File:

PDF, 2.04 MB

2020

To build up a library is to create a life. It’s never just a random collection of books.

— Carlos María Domínguez

Official channel

Z-Library Desktop Launcher

Z-Library Since 2009 support@z-lib.do

EnglishРусскийEspañolItalianoελληνικάاللغة العربيةBahasa IndonesiaBahasa Malaysiaहिन्दीDeutschFrançaisPortuguêsУкраїнськаPolski中文繁體中文日本語Tiếng ViệtAzərbaycan DiliՀայոց լեզուภาษาไทยTürk Diliქართველიবাংলাپښتوతెలుగుاردو한국어SrpskiБългарски