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Differential diagnosis of Smith-Magenis syndrome: 1p36 deletion syndrome

Greenwood Genetic Center; Universidade Estadual Paulista (Unesp); Universidade do Estado do Rio de Janeiro (UERJ); Clemson University (2011-05-01)

Differential diagnosis of Smith-Magenis syndrome: 1p36 deletion syndrome

Greenwood Genetic Center; Universidade Estadual Paulista (Unesp); Universidade do Estado do Rio de Janeiro (UERJ); Clemson University (2011-05-01)

Smith-Magenis syndrome: clinical evaluation in seven Brazilian patients

Universidade Estadual Paulista (Unesp) (Funpec-editora, 2011-01-01)

Smith-Magenis syndrome (SMS) is a complex congenital anomaly characterized by craniofacial anomalies, neurological and behavioral disorders. SMS is caused by a deletion in region 17p11.2, which includes the RAI1 gene (90% ...

Smith-Magenis syndrome: clinical evaluation in seven Brazilian patients

Universidade Estadual Paulista (Unesp) (Funpec-editora, 2011-01-01)

Speech and language characteristics in Smith–Magenis syndrome: Case reportCaracterísticas del habla y del lenguaje en el síndrome de Smith-Magenis: caso clínico

Universidad autónoma de Madrid; Universidad Autónoma de Madrid; Universidad de Castilla La Mancha; Universidad de Alcalá de Henares; Universidade Estadual Paulista (Unesp) (2021-01-01)

Smith–Magenis syndrome (SMS) is a rare neurodevelopmental disorder with mild-to-moderate intellectual disability. Speech and language impairments have not been well described as part of the SMS phenotype. This study reports ...

Mouse models of genomic syndromes as tools for understanding the basis of complex traits: an example with the smith-magenis and the potocki-lupski syndromes

Autor desconocido (BENTHAM SCIENCE PUBLISHERS, 2009)

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Differential diagnosis of Smith-Magenis syndrome: 1p36 deletion syndrome

Differential diagnosis of Smith-Magenis syndrome: 1p36 deletion syndrome

Smith-Magenis syndrome: clinical evaluation in seven Brazilian patients

Smith-Magenis syndrome: clinical evaluation in seven Brazilian patients

Speech and language characteristics in Smith–Magenis syndrome: Case reportCaracterísticas del habla y del lenguaje en el síndrome de Smith-Magenis: caso clínico

Mouse models of genomic syndromes as tools for understanding the basis of complex traits: an example with the smith-magenis and the potocki-lupski syndromes

Differential diagnosis of Smith-Magenis syndrome: 1p36 deletion syndrome

Análise molecular de pacientes com síndromes de Smith-Magenis

Análise molecular de pacientes com síndromes de Smith-Magenis

Phenotypic consequences of copy number variation: insights from smith-magenis and potocki-lupski syndrome mouse models

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Differential diagnosis of Smith-Magenis syndrome: 1p36 deletion syndrome

Differential diagnosis of Smith-Magenis syndrome: 1p36 deletion syndrome

Smith-Magenis syndrome: clinical evaluation in seven Brazilian patients

Smith-Magenis syndrome: clinical evaluation in seven Brazilian patients

Speech and language characteristics in Smith–Magenis syndrome: Case reportCaracterísticas del habla y del lenguaje en el síndrome de Smith-Magenis: caso clínico

Mouse models of genomic syndromes as tools for understanding the basis of complex traits: an example with the smith-magenis and the potocki-lupski syndromes

Differential diagnosis of Smith-Magenis syndrome: 1p36 deletion syndrome

Análise molecular de pacientes com síndromes de Smith-Magenis

Análise molecular de pacientes com síndromes de Smith-Magenis

Phenotypic consequences of copy number variation: insights from smith-magenis and potocki-lupski syndrome mouse models