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Neurotoxicology and teratology, ISSN 0892-0362, 1987
Journal
Journal
Clinical dysmorphology, ISSN 0962-8827, 1992
Journal
2006, ISBN 9781588295590, xvii, 426
A grand summary and synthesis of the tremendous amount of data now available in the post genomic era on the structural features, architecture, and evolution of... 
Molecular aspects | Genetic disorders | Diseases | Medicine | Medicine & Public Health | Pathology
Book
Journal of medical genetics, ISSN 0022-2593
Journal
2010, 1, ISBN 9780520257689, xiii, 273
In 1847, during the great age of the freak show, the British periodical Punch bemoaned the public's “prevailing taste for deformity.” This vividly detailed... 
Abnormalities, Human | Great Britain | Freak shows | Human body | History | Social aspects | 19th century | Europe | HISTORY | Human body - Social aspects - Great Britain - History - 19th century | British Culture | English Literature | Related Studies | Nineteenth Century | Freak Shows
Book
Journal
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 | Congenital ataxia | Hypomorphic variants | Developmental defects | Ciliopathies | Polymicrogyria | Molar tooth sign | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | 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
Orphanet journal of rare diseases, ISSN 1750-1172, 2011, Volume 6, Issue 1, pp. 56 - 56
...: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities... 
Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Abnormalities, Multiple - pathology | Limb Deformities, Congenital - genetics | Radius - pathology | Kidney - pathology | Humans | Male | Tracheoesophageal Fistula - complications | Anus, Imperforate - pathology | Spine - abnormalities | Heart Defects, Congenital - genetics | Abnormalities, Multiple - epidemiology | Female | Spine - pathology | Anal Canal - pathology | Abnormalities, Multiple - genetics | Anus, Imperforate - diagnosis | Infant, Newborn | Trachea - abnormalities | Tracheoesophageal Fistula - epidemiology | Anus, Imperforate - complications | Heart Defects, Congenital - pathology | Radius - abnormalities | Esophagus - abnormalities | Anal Canal - abnormalities | Trachea - pathology | Limb Deformities, Congenital - diagnosis | Esophagus - pathology | Heart Defects, Congenital - complications | Kidney - abnormalities | Limb Deformities, Congenital - epidemiology | Abnormalities, Multiple - diagnosis | Anus, Imperforate - genetics | Tracheoesophageal Fistula - genetics | Heart Defects, Congenital - epidemiology | Heart Defects, Congenital - diagnosis | Limb Deformities, Congenital - complications | Anus, Imperforate - epidemiology | Limb Deformities, Congenital - pathology | Care and treatment | Genetic aspects | Prognosis | Diagnosis | VATER syndrome | Index Medicus
Journal Article
2012, ISBN 9780553509977, 315 pages
August Pullman was born with a facial deformity that, up until now, prevented him from going to a mainstream school. Starting 5th grade at Beecher Prep, he... 
Manhattan (New York, N.Y.) | Abnormalities, Human | Disabled Children | Abnormalities, Multiple | Middle schools | Brothers and sisters | Self-acceptance | Private schools | Parent and child | Family Relations | Students | psychology | Mainstreaming (Education) | Craniofacial Abnormalities | Schools
Book
Indian journal of medical research (New Delhi, India : 1994), ISSN 0971-5916, 2016, Volume 143, Issue 5, pp. 616 - 623
Background & objectives: The role of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in congenital bilateral absence of vas deferens... 
Congenital absence of seminal vesicles | Unilateral renal agenesis | Ectopic kidney | Cystic fibrosis transmembrane conductance regulator gene | Congenital bilateral absence of vas deferens | Immunology | Life Sciences & Biomedicine | Medicine, General & Internal | General & Internal Medicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Vas Deferens - pathology | Kidney - pathology | Kidney Diseases - congenital | Kidney Diseases - pathology | Humans | Vas Deferens - abnormalities | Male | Infertility, Male - pathology | Congenital Abnormalities - pathology | Kidney Diseases - genetics | Congenital Abnormalities - genetics | Infertility, Male - genetics | Kidney - abnormalities | Male Urogenital Diseases - pathology | Adult | Cystic Fibrosis Transmembrane Conductance Regulator - genetics | Female | Heterozygote | Polymorphism, Single Nucleotide | Mutation | Male Urogenital Diseases - genetics | Gene mutations | Abnormalities | Cystic fibrosis | Genetic aspects | Birth defects | Genetic regulation | Renal agenesis | Health aspects | Vas deferens | Haplotypes | Congenital diseases | Statistical analysis | Spermatogenesis | Males | Abdomen | Genotype & phenotype | Biopsy | Infertility | Deoxyribonucleic acid--DNA | Polymorphism | Index Medicus | cystic fibrosis transmembrane conductance regulator gene | ectopic kidney | congenital absence of seminal vesicles | Original | unilateral renal agenesis | Congenital bilateral absence of vas deferens - congenital absence of seminal vesicles - cystic fibrosis transmembrane conductance regulator gene - ectopic kidney - unilateral renal agenesis
Journal Article
2007, 4th ed., ISBN 9781846285240, xiv, 877
This is the fourth edition, fully revised and updated, of what has become the classic reference in the field of fetal and neonatal pathology... 
Fetal Diseases | Congenital Abnormalities | pathology | Autopsy | methods | Infant, Newborn, Diseases | Pediatric pathology | Fetus | Newborn infants | Pathophysiology | Abnormalities | Diseases
Book