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Neurology, ISSN 0028-3878, 2010, Volume 74, Issue 5, pp. 386 - 391
OBJECTIVES: To develop subjective (visual) and objective (morphometric) rating scales for the classification of MRI in infants who had microcephaly with a... 
APPEARANCE | MAGNETIC-RESONANCE | HYPOPLASIA | MALFORMATION | MUTATIONS | CORTICAL DEVELOPMENT | BRAIN | MORPHOLOGY | CLINICAL NEUROLOGY | CHILDREN | FEATURES | Magnetic Resonance Imaging | Agenesis of Corpus Callosum | Humans | Microcephaly - pathology | Brain Mapping | Female | Infant | Male | Statistics as Topic | Microcephaly - classification | Infant, Newborn | Index Medicus | Abridged Index Medicus
Journal Article
International Journal of Environmental Research and Public Health, ISSN 1661-7827, 09/2018, Volume 15, Issue 9, p. 1899
Journal Article
BMC Medical Genetics, ISSN 1471-2350, 06/2015, Volume 16, Issue 1, pp. 41 - 41
Background: Cohen Syndrome (COH1) is a rare autosomal recessive disorder, principally identified by ocular, neural and muscular deficits. We identified three... 
HETEROGENEITY | GENE | GENETICS & HEREDITY | CLINICAL VARIABILITY | PHENOTYPE | SPECTRUM | DIAGNOSTIC-CRITERIA | NATURAL-HISTORY | SEQUENCING DATA | DELETIONS | DEFICIENCY | Autistic Disorder - pathology | Microcephaly - genetics | Humans | Molecular Sequence Data | Male | Developmental Disabilities - genetics | Developmental Disabilities - classification | Microcephaly - classification | Obesity - genetics | Microcephaly - ethnology | Intellectual Disability - genetics | Haplotypes - genetics | Developmental Disabilities - pathology | Pakistan | Base Sequence | Microcephaly - pathology | Female | Fingers - abnormalities | Muscle Hypotonia - classification | Obesity - classification | Abnormalities, Multiple - genetics | Intellectual Disability - classification | Intellectual Disability - ethnology | Autistic Disorder - genetics | Muscle Hypotonia - genetics | Vesicular Transport Proteins - genetics | Intellectual Disability - pathology | Obesity - ethnology | Genotype | Muscle Hypotonia - ethnology | Myopia - pathology | Fingers - pathology | Genes, Recessive | Sequence Analysis, DNA | Obesity - pathology | Myopia - genetics | Homozygote | Muscle Hypotonia - pathology | Myopia - ethnology | Phenotype | Myopia - classification | Pedigree | Developmental Disabilities - ethnology | Sequence Deletion - genetics | Autism | Genetic aspects | Nucleotide sequencing | Gene mutations | Analysis | DNA sequencing | Index Medicus
Journal Article
Human Genetics, ISSN 0340-6717, 7/2014, Volume 133, Issue 7, pp. 939 - 949
Journal Article
by Faria, Nuno Rodrigues and Do Socorro Da Silva Azevedo, Raimunda and Kraemer, Moritz U. G and Souza, Renato and Cunha, Mariana Sequetin and Hill, Sarah C and Thézé, Julien and Bonsall, Michael B and Bowden, Thomas A and Rissanen, Ilona and Rocco, Iray Maria and Nogueira, Juliana Silva and Maeda, Adriana Yurika and Da Silva Vasami, Fernanda Giseli and De Lima Macedo, Fernando Luiz and Suzuki, Akemi and Rodrigues, Sueli Guerreiro and Cruz, Ana Cecilia Ribeiro and Nunes, Bruno Tardeli and De Almeida Medeiros, Daniele Barbosa and Rodrigues, Daniela Sueli Guerreiro and Queiroz, Alice Louize Nunes and Da Silva, Eliana Vieira Pinto and Henriques, Daniele Freitas and Da Rosa, Elisabeth Salbe Travassos and De Oliveira, Consuelo Silva and Martins, Livia Caricio and Vasconcelos, Helena Baldez and Casseb, Livia Medeiros Neves and De Brito Simith, Darlene and Messina, Jane P and Abade, Leandro and Lourenço, José and Alcantara, Luiz Carlos and De Lima, Maricélia Maia and Giovanetti, Marta and Hay, Simon I and De Oliveira, Rodrigo Santos and Da Silva Lemos, Poliana and De Oliveira, Layanna Freitas and De Lima, Clayton Pereira Silva and Da Silva, Sandro Patroca and De Vasconcelos, Janaina Mota and Franco, Luciano and Cardoso, Jedson Ferreira and Da Silva Gonçalves Vianez-Júnior, João Lídio and Mir, Daiana and Bello, Gonzalo and Delatorre, Edson and Khan, Kamran and Creatore, Marisa and Coelho, Giovanini Evelim and De Oliveira, Wanderson Kleber and Tesh, Robert and Pybus, Oliver G and Nunes, Marcio R. T and Vasconcelos, Pedro F. C
Science, ISSN 0036-8075, 04/2016, Volume 352, Issue 6283, pp. 345 - 349
Journal Article
Trends in Microbiology, ISSN 0966-842X, 2016, Volume 24, Issue 7, pp. 521 - 522
Journal Article
Nature, ISSN 0028-0836, 09/2010, Volume 467, Issue 7312, pp. 207 - 210
Journal Article
Brain, ISSN 0006-8950, 2014, Volume 137, Issue 6, pp. 1676 - 1700
Journal Article
Nature Genetics, ISSN 1061-4036, 06/2015, Volume 47, Issue 7, pp. 809 - 813
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 04/2014, Volume 94, Issue 4, pp. 547 - 558
Journal Article