| Item Type | Name |
|
Concept
|
Aortic Coarctation
|
|
Concept
|
Amyotrophic Lateral Sclerosis
|
|
Concept
|
Aortic Valve Stenosis
|
|
Concept
|
Asparagine
|
|
Concept
|
Congenital Abnormalities
|
|
Concept
|
Abnormalities, Multiple
|
|
Concept
|
Cyclic AMP
|
|
Concept
|
Ceruloplasmin
|
|
Concept
|
Chromosome Banding
|
|
Concept
|
Chromosomes, Human, Pair 2
|
|
Concept
|
Chromosomes, Human, Pair 6
|
|
Concept
|
DiGeorge Syndrome
|
|
Concept
|
Calcinosis
|
|
Concept
|
Chromosomes, Human, Pair 1
|
|
Concept
|
Foot Deformities, Congenital
|
|
Concept
|
Chromosome Deletion
|
|
Concept
|
Chromosomes, Human, Pair 4
|
|
Concept
|
Chromosomes, Human, Pair 5
|
|
Concept
|
Cleft Palate
|
|
Concept
|
C-Reactive Protein
|
|
Concept
|
Glycogen Storage Disease Type II
|
|
Concept
|
Craniofacial Dysostosis
|
|
Concept
|
Creatine Kinase
|
|
Concept
|
De Lange Syndrome
|
|
Concept
|
Chromosomes, Human, Pair 10
|
|
Concept
|
Chromosomes, Human, Pair 17
|
|
Concept
|
Chromosomes, Human, Pair 19
|
|
Concept
|
Exons
|
|
Concept
|
Fathers
|
|
Concept
|
Craniosynostoses
|
|
Concept
|
Cri-du-Chat Syndrome
|
|
Concept
|
Electron Transport Complex IV
|
|
Concept
|
Genetics
|
|
Concept
|
Genetics, Medical
|
|
Concept
|
Microcephaly
|
|
Concept
|
Mice, Transgenic
|
|
Concept
|
Immunohistochemistry
|
|
Concept
|
Microphthalmos
|
|
Concept
|
Cricetinae
|
|
Concept
|
Pierre Robin Syndrome
|
|
Concept
|
Heart Defects, Congenital
|
|
Concept
|
Skin Abnormalities
|
|
Concept
|
Hepatolenticular Degeneration
|
|
Concept
|
Humans
|
|
Concept
|
Leukodystrophy, Globoid Cell
|
|
Concept
|
Trisomy
|
|
Concept
|
Vitamin K Deficiency
|
|
Concept
|
Oligodeoxyribonucleotides, Antisense
|
|
Concept
|
Turner Syndrome
|
|
Concept
|
RNA Splice Sites
|
|
Concept
|
Limb Deformities, Congenital
|
|
Concept
|
Arrhythmogenic Right Ventricular Dysplasia
|
|
Concept
|
Malformations of Cortical Development
|
|
Concept
|
Disclosure
|
|
Concept
|
Parents
|
|
Concept
|
Mice
|
|
Concept
|
Niemann-Pick Disease, Type C
|
|
Concept
|
Genetic Research
|
|
Concept
|
Core Binding Factor Alpha 1 Subunit
|
|
Concept
|
Rats
|
|
Concept
|
Adaptor Proteins, Signal Transducing
|
|
Concept
|
Zebrafish
|
|
Concept
|
Cation Transport Proteins
|
|
Concept
|
Chromosome Disorders
|
|
Concept
|
Pathology, Molecular
|
|
Concept
|
Chromosomes, Human, Pair 16
|
|
Concept
|
Curriculum
|
|
Concept
|
Genetic Counseling
|
|
Concept
|
Hand Deformities, Congenital
|
|
Concept
|
Menkes Kinky Hair Syndrome
|
|
Concept
|
Maple Syrup Urine Disease
|
|
Concept
|
Mesocricetus
|
|
Concept
|
Monosomy
|
|
Concept
|
Computational Biology
|
|
Concept
|
Genomics
|
|
Concept
|
Chromosomes, Human, X
|
|
Concept
|
Chromosomes, Human, Y
|
|
Concept
|
Ovotesticular Disorders of Sex Development
|
|
Academic Article
|
Clinic-based study of plexiform neurofibromas in neurofibromatosis 1.
|
|
Academic Article
|
Partial monosomy of distal 10q: three new cases and a review.
|
|
Academic Article
|
Deletion of 1q in a patient with acrofacial dysostosis.
|
|
Academic Article
|
"Molecular rulers" for calibrating phenotypic effects of telomere imbalance.
|
|
Academic Article
|
Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations.
|
|
Academic Article
|
Paternal deletion 6q24.3: a new congenital anomaly syndrome associated with intrauterine growth failure, early developmental delay and characteristic facial appearance.
|
|
Academic Article
|
Familial pyloric stenosis associated with developmental delays.
|
|
Academic Article
|
SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome.
|
|
Academic Article
|
Mosaicism del(22)(q11.2q11.2)/dup(22)(q11.2q11.2) in a patient with features of 22q11.2 deletion syndrome.
|
|
Academic Article
|
Microphthalmia with linear skin defects: a case report and review.
|
|
Academic Article
|
Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome.
|
|
Academic Article
|
Calibration of 6q subtelomere deletions to define genotype/phenotype correlations.
|
|
Academic Article
|
Haploinsufficiency of TAB2 causes congenital heart defects in humans.
|
|
Academic Article
|
Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13.
|
|
Academic Article
|
Fine mapping of a locus for nonsyndromic mental retardation on chromosome 19p13.
|
|
Academic Article
|
Evidence of a mechanism for isodicentric chromosome Y formation in a 45,X/46,X,idic(Y)(p11.31)/46,X,del(Y)(p11.31) mosaic karyotype.
|
|
Academic Article
|
Expanding the spectrum of microdeletion 4q21 syndrome: a partial phenotype with incomplete deletion of the minimal critical region and a new association with cleft palate and Pierre Robin sequence.
|
|
Academic Article
|
Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder.
|
|
Academic Article
|
Recurrent Anion Gap Acidosis: An Unusual Presentation of X-Linked Adrenoleukodystrophy in a Five-year-old Male.
|
|
Academic Article
|
A 13-year old female with intractable seizures.
|
|
Academic Article
|
4q21 microdeletion in a patient with epilepsy and brain malformations.
|
|
Academic Article
|
The Effect of the Testis on the Ovary: Structure-Function Relationships in a Neonate with a Unilateral Ovotestis (Ovotesticular Disorder of Sex Development)?.
|
|
Academic Article
|
Professional medical education and genomics.
|
|
Academic Article
|
Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience.
|
|
Concept
|
Copper-transporting ATPases
|