Microdeletion and Microduplication Syndromes von Weise, Anja, Mrasek, Kristin, Klein, Elisabeth, Mulatinho, Milene, Llerena, Juan C., Hardekopf, David, Pekova, Sona, Bhatt, Samarth, Kosyakova, Nadezda, Liehr, Thomas

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De novo loss‐of‐function variants in STAG2 are associated with developmental delay, microcephaly, and congenital anomalies von Mullegama, Sureni V., Klein, Steven D., Mulatinho, Milene V., Senaratne, Tharanga Niroshini, Singh, Kathryn, Nguyen, Dzung C., Gallant, Natalie M., Strom, Samuel P., Ghahremani, Shahnaz, Rao, Nagesh P., Martinez‐Agosto, Julian A.

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Severe intellectual disability, omphalocele, hypospadia and high blood pressure associated to a deletion at 2q22.1q22.3: case report von Mulatinho, Milene Vianna, de Carvalho Serao, Cassio Luiz, Scalco, Fernanda, Hardekopf, David, Pekova, Sona, Mrasek, Kristin, Liehr, Thomas, Weise, Anja, Rao, Nagesh, Llerena, Jr, Juan Clinton

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A New Multicolor Fluorescence In Situ Hybridization Probe Set Directed Against Human Heterochromatin: HCM-FISH von Bucksch, Maria, Ziegler, Monika, Kosayakova, Nadezda, Mulatinho, Milene V., Llerena, Juan C., Morlot, Susanne, Fischer, Wolfgang, Polityko, Anna D., Kulpanovich, Anna I., Petersen, Michael B., Belitz, Britta, Trifonov, Vladimir, Weise, Anja, Liehr, Thomas, Hamid, Ahmed B.

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53. Multidimensional cytogenetics workup on a rare chromosomal aberration von Mulatinho, Milene, Kantarci, Sibel, Crandall, Barbara, Liehr, Thomas, Rao, Nagesh

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Cytogenetic and molecular studies of an X;21 translocation previously diagnosed as complete monosomy 21 von Cardoso, Leila C.A, Moraes, Lúcia, Camilo, Maria Jesus E, Mulatinho, Milene V, Ramos, Hilda, Almeida, José Carlos C, Llerena, Juan C, Seuánez, Héctor N, Vargas, Fernando R

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Microdeletion of ZBTB20 Results in a Phenotype Overlapping With That of the Microdeletion 3q13.31 Syndrome von Mulatinho, Milene, Tenney, Jessica, Vilain, Eric, Quintero-Rivera, Fabiola

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49 - Microdeletion of ZBTB20 Results in a Phenotype Overlapping With That of the Microdeletion 3q13.31 Syndrome von Mulatinho, Milene, Tenney, Jessica, Vilain, Eric, Quintero-Rivera, Fabiola

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Maternal Uniparental Disomy 14 (UPD14) Identified by Clinical Exome Sequencing in an Adolescent with Diverticulosis von Chan, Alvin P., Mulatinho, Milene, Iskander, Paul, Lee, Hane, Martinez-Agosto, Julian A., Yeh, Joanna

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Deletion (1)(p32.2–p32.3) detected by array‐CGH in a patient with developmental delay/mental retardation, dysmorphic features and low cholesterol: A new microdeletion syndrome? von Mulatinho, Milene, Llerena, Juan, Leren, Trond P., Rao, P. Nagesh, Quintero‐Rivera, Fabiola

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Maternal Uniparental Disomy 14 (UPD14) Identified by Clinical Exome Sequencing in an Adolescent with Diverticulosis von Chan, Alvin P, Mulatinho, Milene, Iskander, Paul, Lee, Hane, Martinez-Agosto, Julian A, Yeh, Joanna

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Deletion (1)(p32.2-p32.3) detected by array-CGH in a patient with developmental delay/mental retardation, dysmorphic features and low cholesterol: A new microdeletion syndrome? von Mulatinho, Milene, Llerena, Juan, Leren, Trond P., Rao, P. Nagesh, Quintero-Rivera, Fabiola

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FRAXA screening in Brazilian institutionalized individuals with nonspecific severe mental retardation von Mulatinho, M V, Llerena, J C, Pimentel, M M

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