-
121by Boy, Sonja Catharina“... increased CCND1 gene copy numbers in 17/41 (42%) and increased IGH gene copy numbers in 6/41 (15%) of cases...”
Published 2013
Get full text
Get full text
Get full text
-
122by Tasic V, Mitrotti A, Riepe FG, Kulle AE, Laban N, Polenakovic M, Plaseska-Karanfilska D, Sanna-Cherchi S, Kostovski M, Gucev ZSubjects: “...copy number variations (cnvs)...”
Published 2019-08-01
Get full text
Article -
123by Aleksandra Rojek, Maciej R. Krawczynski, Aleksander Jamsheer, Anna Sowinska-Seidler, Barbara Iwaniszewska, Ewa Malunowicz, Marek Niedziela“... (DAX1) gene. We present a boy with AHC who came at the age of 25 days in a severe state due...”
Published 2016-01-01
Get full text
Article -
124by Pietro Palumbo, Ester Di Muro, Maria Accadia, Mario Benvenuto, Marilena Carmela Di Giacomo, Stefano Castellana, Tommaso Mazza, Marco Castori, Orazio Palumbo, Massimo Carella“... molecular mechanisms including copy number variations, single or multiple exonic deletion and single...”
Published 2021-02-01
Get full text
Article -
125by Boy, Kênia de Assis“...=0,005) appear to affect the hematological response to HU, and patients who have at least one copy...”
Published 2018
Get full text
-
126
-
127by Anna Lusakowska, Maria Jedrzejowska, Anna Kaminska, Katarzyna Janiszewska, Przemysław Grochowski, Janusz Zimowski, Janusz Sierdzinski, Anna Kostera-PruszczykSubjects: “...SMN2 copy number...”
Published 2021-03-01
Get full text
Article -
128by Pavel Tesner, Jana Drabova, Miroslav Stolfa, Martin Kudr, Martin Kyncl, Veronika Moslerova, Drahuse Novotna, Radka Kremlikova Pourova, Eduard Kocarek, Tereza Rasplickova, Zdenek Sedlacek, Marketa Vlckova“... We present a boy with dysmorphic features, developmental delay, intellectual disability...”
Published 2018-05-01
Get full text
Article -
129by Dorothee eKremers, Margarita eBriseño Jaramillo, Martin eBöye, Alban eLemasson, Alban eLemasson, Martine eHAUSBERGERSubjects: “...interspecific vocal copying...”
Published 2011-12-01
Get full text
Article -
130
-
131by Kesavan Meganathan, Ramachandran Prakasam, Dustin Baldridge, Paul Gontarz, Bo Zhang, Fumihiko Urano, Azad Bonni, Susan E. Maloney, Tychele N. Turner, James E. Huettner, John N. Constantino, Kristen L. KrollSubjects: “...Copy number variants...”
Published 2021-07-01
Get full text
Article -
132
-
133
-
134by Silva, Isabela Mayá WayhsSubjects: “...Copy number variation...”
Published 2017
Get full text
Others -
135
-
136
-
137
-
138“... contained in the Aldan-Maadyr National Museum the Tuva Republic. This is the only known manuscript copy...”
Get full text
Article -
139by Pelegrino Karla de, Sugayama Sofia, Catelani Ana, Lezirovitz Karina, Kok Fernando, Chauffaille Maria de“...% of these occurrences. Here we report the case of a boy with development delay, hypoplasia of corpus callosum...”
Published 2013-01-01
Get full text
Article -
140by Hatice Mutlu-Albayrak, Judit Bene, Mehmet Burhan Oflaz, Tijen Tanyalçın, Hüseyin Çaksen, Bela Melegh“... boy with dysmorphic appearance and hypertrophic cardiomyopathy. Tandem MS spectrometry analysis...”
Published 2015-01-01
Get full text
Article