A. Smith

发表

Unbalanced placental expression of imprinted genes in human intrauterine growth restriction.

R. Weksberg, B. Tycko, N. Schupf, 2006, Placenta.

Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2).

J. Lupski, P. Patel, W. Dobyns, 1991, American journal of human genetics.

Linkage analysis using multiple DNA polymorphic markers in normal families and in families with fragile X syndrome

S. Thibodeau, K. Davies, R. Berry, 1988, Human Genetics.

A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3.

D. Ledbetter, A. Tanigami, W. Dobyns, 1997, Human molecular genetics.

Genomic imprinting of PPP1R9A encoding neurabin I in skeletal muscle and extra-embryonic tissues

P Stanier, K Nakabayashi, D Monk, 2004, Journal of Medical Genetics.

TO JMG Genomic imprinting of PPP 1 R 9 A encoding neurabin I in skeletal muscle and extraembryonic tissues

S. Scherer, M. Oshimura, Y. Yoshikawa, 2004 .

Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole‐exome sequencing

B. Fernandez, K. Boycott, T. Hartley, 2017, Clinical genetics.

Chromosomal imbalance in the Aniridia-Wilms' tumor association: 11p interstitial deletion.

U. Francke, V. Riccardi, E. Sujansky, 1978, Pediatrics.

Distinctiveness and correlates of maladaptive behaviour in children and adolescents with Smith-Magenis syndrome.

E. Dykens, A. Smith, A. Smith, 1998, Journal of intellectual disability research : JIDR.

Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care

B. Fernandez, C. Polychronakos, M. Tarnopolsky, 2015, Clinical genetics.

Analysis of parent of origin specific DNA methylation at SNRPN and PW71 in tissues: implication for prenatal diagnosis.

D. Ledbetter, L. Surh, S. Aradhya, 1996, Journal of medical genetics.