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Journal Article
Journal Article
Journal Article
2012, ISBN 9780375899881, 315
Ten-year-old Auggie Pullman, who was born with extreme facial abnormalities and was not expected to survive, goes from being home-schooled to entering fifth... 
Self-acceptance | Abnormalities, Human | Middle schools | Face | Schools | Abnormalities
Book
2010, 3rd ed., ISBN 0470191414, xxii, 962
Dr. Suzanne Cassidy is Chief, Division of Human Genetics, Professor of Clinical Pediatrics, and Director of the Residency Training Program in Medical Genetics... 
Genetic disorders | Abnormalities, Multiple - therapy | Abnormalities, Multiple - diagnosis | Genetic Diseases, Inborn - therapy | Variation | Genetic Diseases, Inborn - diagnosis | Human genetics | Diseases
Book
The American Journal of Human Genetics, ISSN 0002-9297, 10/2017, Volume 101, Issue 4, pp. 552 - 563
The Sonic Hedgehog (SHH) pathway is a key signaling pathway orchestrating embryonic development, mainly of the CNS and limbs. In vertebrates, SHH signaling is... 
polymicrogyria | developmental defects | hypomorphic variants | congenital ataxia | ciliopathies | SUFU | Joubert syndrome | Sonic Hedgehog | molar tooth sign | GLI3 | SHH | SIGNALING PATHWAY | GENETICS & HEREDITY | PLANAR CELL POLARITY | CEREBELLAR DEVELOPMENT | GLI PROTEINS | MUTATIONS | KIF7 | MEDULLOBLASTOMA | PHENOTYPIC SPECTRUM | PRIMARY CILIA | Abnormalities, Multiple - pathology | Skin - metabolism | Humans | Zinc Finger Protein Gli3 | Hedgehog Proteins - metabolism | Male | Bone Diseases, Developmental - genetics | Mutation, Missense | Cerebellum - abnormalities | Bone Diseases, Developmental - pathology | Gene Expression Regulation, Developmental | Kruppel-Like Transcription Factors - metabolism | Kidney Diseases, Cystic - genetics | Craniofacial Abnormalities - pathology | Female | Child | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Repressor Proteins - metabolism | Skin - pathology | Fibroblasts - metabolism | Repressor Proteins - chemistry | Signal Transduction | Cells, Cultured | Repressor Proteins - genetics | Eye Abnormalities - genetics | Fibroblasts - pathology | Genes, Recessive | Sequence Analysis, DNA | Cerebellum - pathology | Kidney Diseases, Cystic - pathology | Nerve Tissue Proteins - metabolism | Eye Abnormalities - pathology | Retina - abnormalities | Retina - pathology | Cohort Studies | Embryonic development | Usage | Gene mutations | Analysis | Nucleotide sequencing | Research | Diagnosis | Children | Health aspects | DNA sequencing | Index Medicus
Journal Article
American Journal of Obstetrics and Gynecology, ISSN 0002-9378, 2014, Volume 211, Issue 6, pp. 675.e1 - 675.e19
Objective We sought to examine the association between increased first-trimester fetal nuchal translucency (NT) measurement and major noncardiac structural... 
Obstetrics and Gynecology | congenital birth defects | increased nuchal translucency | normal karyotype | prenatal screening | 1ST-TRIMESTER | GESTATION | CHROMOSOMALLY NORMAL FETUSES | PROGRAM | PREGNANCY | PATHOPHYSIOLOGY | OBSTETRICS & GYNECOLOGY | Urogenital Abnormalities - diagnostic imaging | Bone Diseases, Metabolic - epidemiology | Congenital Abnormalities - epidemiology | Intestine, Small - abnormalities | Musculoskeletal Abnormalities - epidemiology | Urogenital Abnormalities - epidemiology | Humans | Lung - abnormalities | Risk | Lung - diagnostic imaging | Nervous System Malformations - diagnostic imaging | Lung Diseases - diagnostic imaging | Young Adult | Hydrocephalus - diagnostic imaging | Abnormalities, Multiple - epidemiology | Hydrocephalus - epidemiology | Adult | Female | Intestinal Atresia - epidemiology | Diaphragm - abnormalities | Bone Diseases, Metabolic - diagnostic imaging | Musculoskeletal Abnormalities - diagnostic imaging | Abnormalities, Multiple - diagnostic imaging | Logistic Models | Congenital Abnormalities - diagnostic imaging | Nervous System Malformations - epidemiology | Pregnancy | Bone Diseases, Metabolic - congenital | Ultrasonography, Prenatal | Intestinal Atresia - diagnostic imaging | Nuchal Translucency Measurement | Adolescent | Intestine, Small - diagnostic imaging | Lung Diseases - epidemiology | Cohort Studies | Measurement | Infants | Birth defects | Public health | Index Medicus | Abridged Index Medicus
Journal Article
Syndrome identification, ISSN 0091-1747
Journal
Journal of Immunology, ISSN 0022-1767, 10/2012, Volume 189, Issue 8, pp. 3957 - 3969
The lectin pathway of complement is an important component of innate immunity. Its activation has been thought to occur via recognition of pathogens by... 
SYSTEM | INDIVIDUALS | PATTERN-RECOGNITION MOLECULES | COMPLEMENT FACTOR-D | MBL | 3MC SYNDROME | STOICHIOMETRY | MUTATIONS | IMMUNOLOGY | IDENTIFICATION | DEFICIENCY | Craniofacial Abnormalities - immunology | Transcriptional Activation - genetics | Complement Pathway, Mannose-Binding Lectin - immunology | Blepharoptosis - genetics | Eye Abnormalities - enzymology | Mannose-Binding Protein-Associated Serine Proteases - physiology | Eye Abnormalities - immunology | Humans | Heart Defects, Congenital - immunology | Craniosynostoses - enzymology | Blepharoptosis - immunology | Developmental Disabilities - genetics | Transcriptional Activation - immunology | Strabismus - genetics | Abdominal Muscles - abnormalities | Abnormalities, Multiple - immunology | Heart Defects, Congenital - genetics | Developmental Disabilities - enzymology | Blepharoptosis - enzymology | Heart Defects, Congenital - enzymology | Mannose-Binding Protein-Associated Serine Proteases - genetics | Complement Pathway, Alternative - genetics | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Strabismus - enzymology | Abdominal Muscles - immunology | Craniosynostoses - genetics | Complement Pathway, Mannose-Binding Lectin - genetics | Cryptorchidism - enzymology | Abdominal Muscles - enzymology | Hip Dislocation, Congenital - genetics | Codon, Nonsense | Eye Abnormalities - genetics | Animals | Craniofacial Abnormalities - enzymology | Craniosynostoses - immunology | Cryptorchidism - immunology | Hip Dislocation, Congenital - immunology | Complement Pathway, Alternative - immunology | Strabismus - immunology | Abnormalities, Multiple - enzymology | Developmental Disabilities - immunology | Hip Dislocation, Congenital - enzymology | Cryptorchidism - genetics | Index Medicus | Abridged Index Medicus
Journal Article
Genetics in Medicine, ISSN 1098-3600, 07/2018, Volume 20, Issue 7, pp. 745 - 753
Journal Article
Journal Article