WILLIAM CRAIGEN to Abnormalities, Multiple
This is a "connection" page, showing publications WILLIAM CRAIGEN has written about Abnormalities, Multiple.
Connection Strength
0.745
-
OEIS complex associated with chromosome 1p36 deletion: a case report and review. Am J Med Genet A. 2010 Feb; 152A(2):504-11.
Score: 0.214
-
Paternal isodisomy of chromosome 7 associated with complete situs inversus and immotile cilia. Am J Hum Genet. 1998 Jun; 62(6):1551-5.
Score: 0.095
-
Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. Am J Hum Genet. 2014 Nov 06; 95(5):579-83.
Score: 0.074
-
Identification of complex chromosome 18 rearrangements by FISH and array CGH in two patients with apparent isochromosome 18q. Am J Med Genet A. 2011 Jun; 155A(6):1465-8.
Score: 0.058
-
Left ventricular noncompaction in Sotos syndrome. Am J Med Genet A. 2011 May; 155A(5):1115-8.
Score: 0.058
-
Absent smooth muscle actin immunoreactivity of the small bowel muscularis propria circular layer in association with chromosome 15q11 deletion in megacystis-microcolon-intestinal hypoperistalsis syndrome. Pediatr Dev Pathol. 2010 Jul-Aug; 13(4):322-5.
Score: 0.055
-
Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size. J Med Genet. 2010 May; 47(5):332-41.
Score: 0.053
-
Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation. Am J Hum Genet. 2006 Feb; 78(2):303-14.
Score: 0.040
-
SNP genotyping to screen for a common deletion in CHARGE syndrome. BMC Med Genet. 2005 Feb 14; 6:8.
Score: 0.038
-
A submicroscopic deletion in Xq26 associated with familial situs ambiguus. Am J Hum Genet. 1997 Aug; 61(2):395-401.
Score: 0.022
-
De novo proximal interstitial deletions of 14q: cytogenetic and molecular investigations. Am J Med Genet. 1994 Aug 01; 52(1):44-50.
Score: 0.018
-
Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder. Neurogenetics. 2009 Oct; 10(4):363-9.
Score: 0.013
-
Human GRB10 is imprinted and expressed from the paternal and maternal allele in a highly tissue- and isoform-specific fashion. Hum Mol Genet. 2000 Jul 01; 9(11):1587-95.
Score: 0.007