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European journal of human genetics : EJHG, ISSN 1018-4813, 01/2015, Volume 23, Issue 3, pp. 292 - 301
Journal Article
Journal Article
European journal of human genetics : EJHG, ISSN 1018-4813, 03/2015, Volume 23, Issue 3, pp. 292 - 301
Baraitser-Winter, Fryns-Aftimos and cerebrofrontofacial syndrome types 1 and 3 have recently been associated with heterozygous gain-of-function mutations in... 
IRIS COLOBOMA | GROWTH-RETARDATION | APPARENTLY UNDESCRIBED SYNDROME | MENTAL-RETARDATION | GAMMA-ACTIN | FUNCTIONAL DIVERSITY | GYRAL MALFORMATIONS | SHALLOW ORBITS | BETA-ACTIN | FACIAL SYNDROME
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 01/1994, Volume 31, Issue 1, pp. 68 - 71
A family with five members who have variable findings of leuconychia, knuckle pads, hearing loss, and palmoplantar hyperkeratosis is described. The findings in... 
GENETICS & HEREDITY
Journal Article
Journal of Child Neurology, ISSN 0883-0738, 01/1996, Volume 11, Issue 1, pp. 49 - 53
Journal Article
American Journal of Medical Genetics, ISSN 0148-7299, 12/1995, Volume 60, Issue 6, pp. 573 - 579
Journal Article
Pediatric Neurology, ISSN 0887-8994, 1994, Volume 11, Issue 2, pp. 99 - 100
Journal Article
Journal of Adolescent Health Care, ISSN 0197-0070, 1983, Volume 4, Issue 1, pp. 35 - 39
The treatment of anorexia nervosa (AN) is often complicated by the subversion of therapy by the patient. We describe the undermining of treatment by ward... 
Staff undermining of therapy | Anorexia nervosa
Journal Article
American Journal of Medical Genetics, ISSN 0148-7299, 11/1990, Volume 37, Issue 3, pp. 392 - 400
... (2)(q31q33) . J Med Genet 20 : 464 – 465 . Benson K , Gordon M , Wassman ER , Tsi C ( 1986 ) Interstitial deletion of the long arm of chromosome 2 in a malformed... 
ectrodactyly | multiple anomaly syndromes | dir ins | Chromosome Deletion | Humans | Child, Preschool | Infant | Male | Brain - abnormalities | Chromosomes, Human, Pair 2 | Heart Defects, Congenital - genetics | Pedigree | Karyotyping | Chromosome Aberrations | Female | Child | Abnormalities, Multiple - genetics | Infant, Newborn | Limb Deformities, Congenital | Seizures
Journal Article
American Journal of Medical Genetics, ISSN 0148-7299, 02/1993, Volume 45, Issue 3, pp. 285 - 291
Journal Article
American Journal of Medical Genetics, ISSN 0148-7299, 03/1989, Volume 32, Issue 3, pp. 359 - 363
We report an infant with del(2)(q31q33). His phenotype is compared with those of the 7 children reported previously with the apparently identical deletion.... 
deletion 2q | GENETICS & HEREDITY | Abnormalities, Multiple - pathology | Chromosome Deletion | Chromosomes, Human, Pair 2 | Phenotype | Chromosome Banding | Humans | Karyotyping | Infant | Male | Child | Abnormalities, Multiple - genetics
Journal Article
American Journal of Medical Genetics, ISSN 0148-7299, 05/1989, Volume 33, Issue 1, pp. 108 - 112
Del(3)(p25pter) is associated with a characteristic multiple congenital anomalies/mental retardation syndrome. Early recognition of these manifestations and... 
counseling | mental retardation | chromosomes | Chromosome Deletion | Facial Bones - abnormalities | Chromosomes, Human, Pair 3 | Humans | Female | Infant | Male | Chromosome Mapping | Bone Diseases, Developmental - genetics | Abnormalities, Multiple - genetics | Syndrome | Intellectual Disability - genetics
Journal Article
American journal of medical genetics, ISSN 0148-7299, 12/1995, Volume 60, Issue 6, pp. 573 - 579
Journal Article
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