S. Kennedy

发表

Cost comparison of genetic and clinical screening in families with hereditary hemorrhagic telangiectasia

M. Krahn, K. Vandezande, M. Letarte, 2005, American journal of medical genetics. Part A.

Visceral manifestations in hereditary haemorrhagic telangiectasia type 2

D. Bonneau, J. McDonald, M. Letarte, 2003, Journal of medical genetics.

International Guidelines for the Diagnosis and Telangiectasia Management of Hereditary Hemorrhagic

A. Guttmacher, D. Ross, J. Piccirillo, 2022 .

A novel missense mutation in the galactosyltransferase‐I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers–Danlos syndrome resembling the progeroid type

L. Tsui, A. Teebi, Sumbal Zaidi, 2004, American journal of medical genetics. Part A.

Microcephaly-cardiomyopathy syndrome: confirmation of the phenotype

B. McCrindle, A. Teebi, K. Lee, 1999, Journal of medical genetics.

Genetic analysis of patients with the Saethre-Chotzen phenotype.

S. Scherer, W. Meschino, P. Ray, 2002, American journal of medical genetics.

Novel mutation in the gene encoding c‐Abl‐binding protein SH3BP2 causes cherubism

L. Tsui, A. Teebi, R. Aviv, 2003, American journal of medical genetics. Part A.

Cornelia de Lange syndrome: Parental preferences regarding the provision of medical information

S. Vohra, E. Atenafu, A. Levin, 2006, American journal of medical genetics. Part A.

Renal Failure Associated with APECED and Terminal 4q Deletion: Evidence of Autoimmune Nephropathy

J. Casanova, N. Kaya, A. Puel, 2010, Clinical & developmental immunology.

USH1G with unique retinal findings caused by a novel truncating mutation identified by genome-wide linkage analysis

B. Meyer, K. Tabbara, M. Al-Owain, 2012, Molecular vision.

Charcot‐Marie‐Tooth disease and related neuropathies: Mutation distribution and genotype‐phenotype correlation

J. Lupski, C. Boerkoel, M. Scavina, 2002, Annals of neurology.

Detecting rearrangements in children using subtelomeric FISH and SKY.

R. Weksberg, S. Meyn, A. Teebi, 2002, American journal of medical genetics.

Clinical and genetic aspects of trigonocephaly: A study of 25 cases

D. Chitayat, P. Chakraborty, A. Teebi, 2002, American journal of medical genetics. Part A.

Inherited duplication, dup (8) (p23.1p23.1) pat, in a father and daughter with congenital heart defects.

A. Teebi, I. Adatia, I. Teshima, 2001, American journal of medical genetics.

International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia

A. Guttmacher, D. Ross, J. Piccirillo, 2009, Journal of Medical Genetics.

Congenital mydriasis, patent ductus arteriosus, and congenital cystic lung disease: New syndromic spectrum?

S. Dyack, S. Kennedy, Ahmad S. Teebi, 2004, American journal of medical genetics. Part A.

Severe and mild phenotypes in Pfeiffer syndrome with splice acceptor mutations in exon IIIc of FGFR2.

P. Ray, A. Teebi, S. Kennedy, 2002, American journal of medical genetics.

A comprehensive introduction to the genetic basis of non-syndromic hearing loss in the Saudi Arabian population

D. Trabzuni, B. Meyer, Sameera Sogaty, 2011, BMC Medical Genetics.

Newly recognized autosomal recessive acrofacial dysostosis syndrome resembling Nager syndrome

S. Kennedy, Ahmad S. Teebi, 2004, American journal of medical genetics. Part A.

The first three years of screening for medium chain acyl-CoA dehydrogenase deficiency (MCADD) by newborn screening ontario

K. Wilson, P. Chakraborty, B. Potter, 2010, BMC pediatrics.

Craniofacial anomalies, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation in two sisters: a new autosomal recessive MCA/MR syndrome?

A. Teebi, A. Levin, S. Kennedy, 2002, Journal of medical genetics.

Developing a National Newborn Screening Strategy for Canada

K. Wilson, P. Chakraborty, B. Potter, 2010 .