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Human Molecular Genetics, ISSN 0964-6906, 12/2013, Volume 22, Issue 25, pp. 5121 - 5135
Journal Article
Nature genetics, ISSN 1061-4036, 2011, Volume 43, Issue 6, pp. 601 - 606
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 08/2012, Volume 91, Issue 2, pp. 372 - 378
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 05/2014, Volume 94, Issue 5, pp. 734 - 744
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 2010, Volume 86, Issue 3, pp. 434 - 439
Journal Article
Clinical Cancer Research, ISSN 1078-0432, 06/2017, Volume 23, Issue 12, pp. e83 - e90
In October 2016, the American Association for Cancer Research held a meeting of international childhood cancer predisposition syndrome experts to evaluate the... 
GENOTYPE-PHENOTYPE CORRELATION | RUBINSTEIN-TAYBI-SYNDROME | SOTOS-SYNDROME | ONCOLOGY | SCHINZEL-GIEDION-SYNDROME | CAUSE NOONAN | JUVENILE MYELOMONOCYTIC LEUKEMIA | GERM-CELL TUMOR | OF-FUNCTION MUTATIONS | CLINICAL-FEATURES | FACTOR-I TITF-1/NKX2.1 | Abnormalities, Multiple - pathology | Neoplastic Syndromes, Hereditary - pathology | Craniofacial Abnormalities - epidemiology | Sotos Syndrome - epidemiology | Colorectal Neoplasms - genetics | Humans | Brain Neoplasms - pathology | Nails, Malformed - pathology | Intellectual Disability - genetics | Noonan Syndrome - pathology | Neoplastic Syndromes, Hereditary - epidemiology | Rubinstein-Taybi Syndrome - genetics | Congenital Hypothyroidism - genetics | Abnormalities, Multiple - epidemiology | Craniofacial Abnormalities - pathology | Thyroid Nuclear Factor 1 - genetics | Neoplastic Syndromes, Hereditary - genetics | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Intellectual Disability - epidemiology | Colorectal Neoplasms - epidemiology | Hand Deformities, Congenital - epidemiology | Sotos Syndrome - genetics | Costello Syndrome - pathology | Sotos Syndrome - pathology | Risk Factors | Intellectual Disability - pathology | Brain Neoplasms - genetics | Rubinstein-Taybi Syndrome - pathology | Noonan Syndrome - genetics | Nails, Malformed - genetics | Costello Syndrome - epidemiology | Costello Syndrome - genetics | Hand Deformities, Congenital - genetics | Nails, Malformed - epidemiology | Rubinstein-Taybi Syndrome - epidemiology | Congenital Hypothyroidism - pathology | Noonan Syndrome - epidemiology | Mutation | Protein Tyrosine Phosphatase, Non-Receptor Type 11 - genetics | Colorectal Neoplasms - pathology | Congenital Hypothyroidism - epidemiology | Hand Deformities, Congenital - pathology | Brain Neoplasms - epidemiology | Brain | Physical examinations | Brain tumors | Health problems | Disorders | Health risks | Aciduria | Risk | Infants | Patients | K-Ras protein | Surveillance | Children | Health risk assessment | Thyroid transcription factor 1 | Metabolic disorders | Cancer
Journal Article
Clinical Genetics, ISSN 0009-9163, 06/2014, Volume 85, Issue 6, pp. 548 - 554
Journal Article
Clinical Genetics, ISSN 0009-9163, 10/2014, Volume 86, Issue 4, pp. 318 - 325
Journal Article
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 11/2017, Volume 173, Issue 11, pp. 3104 - 3108
We present a 4‐year‐old girl with delayed neuromotor development, short stature of prenatal onset, and specific behavioral and craniofacial features harboring... 
nicolaides baraitser syndrome | ARID2 | coffin‐siris syndrome | intellectual disability | SWI/SNF complex | coffin-siris syndrome | SWI | SPECIFICITY | GENOTYPE | COMPONENTS | PHENOTYPE | SUBUNITS | FAMILY PROTEINS | SNF complex | CHROMATIN-REMODELING COMPLEX | GENES | GENETICS & HEREDITY | MUTATIONS | Abnormalities, Multiple - pathology | Motor Disorders - physiopathology | Face - abnormalities | Humans | Hypotrichosis - genetics | Child, Preschool | Foot Deformities, Congenital - genetics | Micrognathism - pathology | Hand Deformities, Congenital - diagnosis | Hypotrichosis - diagnosis | Intellectual Disability - genetics | Micrognathism - diagnosis | Facies | Female | Abnormalities, Multiple - genetics | Foot Deformities, Congenital - pathology | Genetic Predisposition to Disease | Motor Disorders - genetics | Face - pathology | Micrognathism - genetics | Intellectual Disability - pathology | Foot Deformities, Congenital - diagnosis | Neck - abnormalities | Transcription Factors - genetics | Chromosomal Proteins, Non-Histone - genetics | Intellectual Disability - physiopathology | Hand Deformities, Congenital - genetics | Abnormalities, Multiple - diagnosis | Intellectual Disability - diagnosis | Neck - pathology | Hypotrichosis - pathology | Hand Deformities, Congenital - pathology | Clonal deletion | Gene deletion | Intellectual disabilities | Coffin-Siris syndrome
Journal Article