judith-g-hall documents

Don't use the term “amyoplasia” loosely
Documents Don't use the term “amyoplasia” loosely
The genete approach to human disease, Vincent M. Riccardi. Oxford University Press, New York, 1977, 266 pp., cloth: $13.95, paper: $7.95
Documents The genete approach to human disease, Vincent M. Riccardi. Oxford University Press, New York, 1977, 266 pp., cloth: $13.95, paper: $7.95
Failure of early prenatal diagnosis in classic achondroplasia
Documents Failure of early prenatal diagnosis in classic achondroplasia
Autosomal recessive acrocephalosyndactyly revisited
Documents Autosomal recessive acrocephalosyndactyly revisited
Head growth in achondroplasia: Use of ultrasound studies
Documents Head growth in achondroplasia: Use of ultrasound studies
Detection of Y-specific sequences in patients with Turner syndrome
Documents Detection of Y-specific sequences in patients with Turner syndrome
Familial multiple exostoses—no chromosome 8 deletion observed
Documents Familial multiple exostoses—no chromosome 8 deletion observed
Neurofibromatosis I: Predicting the relation of gene structure to gene function
Documents Neurofibromatosis I: Predicting the relation of gene structure to gene function
Partial expression of Angelman syndrome in mother most likely to be due to mosaicism involving both somatic and germline cells
Documents Partial expression of Angelman syndrome in mother most likely to be due to mosaicism involving both somatic and germline cells
RE: Segmental neurofibromatosis in childhood [Listernick et al., 2003: Am. J. Med. Genet. 121A:132–135.]
Documents RE: Segmental neurofibromatosis in childhood [Listernick et al., 2003: Am. J. Med. Genet. 121A:132–135.]
Re: Distal arthrogryposis in two sisters born to different fathers [Hwu et al. 2004. Am J Med Genet 125A:100–101.]
Documents Re: Distal arthrogryposis in two sisters born to different fathers [Hwu et al. 2004. Am J Med Genet 125A:100–101.]
Re: Microcephalic osteodysplastic primordial dwarfism with severe microdontia and skin anomalies [Kantaputra et al. 2004. Am J Med Genet 130A:181–190]
Documents Re: Microcephalic osteodysplastic primordial dwarfism with severe microdontia and skin anomalies [Kantaputra et al. 2004. Am J Med Genet 130A:181–190]
Victor A. McKusick, M.D.: A clinician's clinician
Documents Victor A. McKusick, M.D.: A clinician's clinician
Review and hypothesis: Syndromes with severe intrauterine growth restriction and very short stature—Are they related to the epigenetic mechanism(s) of fetal survival involved in
Documents Review and hypothesis: Syndromes with severe intrauterine growth restriction and very short stature—Are they related to the epigenetic mechanism(s) of fetal survival involved in
New palpebral fissure measurements
Documents New palpebral fissure measurements
50 Years Ago in The Journal of Pediatrics: Studies in human reproduction, III. The frequency of congenital malformations in the offspring of nondiabetic and diabetic individuals
Documents 50 Years Ago in The Journal of Pediatrics: Studies in human reproduction, III. The frequency of congenital malformations in the offspring of nondiabetic and diabetic individuals
Obituary: Dr. David L. Rimoin
Documents Obituary: Dr. David L. Rimoin
Arthrogryposis (multiple congenital contractures) associated with failed termination of pregnancy
Documents Arthrogryposis (multiple congenital contractures) associated with failed termination of pregnancy
Pediatricians beware: The age of ARTs is upon us
Documents Pediatricians beware: The age of ARTs is upon us
Epigenetics is Here to Stay
Documents Epigenetics is Here to Stay
When is careless conception a form of child abuse? Lessons from maternal phenylketonuria
Documents When is careless conception a form of child abuse? Lessons from maternal phenylketonuria