Darrel J. Waggoner to Female
This is a "connection" page, showing publications Darrel J. Waggoner has written about Female.
Connection Strength
0.273
-
BATTEN DISEASE CAUSED BY A NOVEL MUTATION IN THE PPT1 GENE. Retin Cases Brief Rep. 2016; 10(3):211-3.
Score: 0.025
-
Disclosure of genetic research results to members of a founder population. J Genet Couns. 2014 Dec; 23(6):984-91.
Score: 0.022
-
Evidence of a mechanism for isodicentric chromosome Y formation in a 45,X/46,X,idic(Y)(p11.31)/46,X,del(Y)(p11.31) mosaic karyotype. Eur J Med Genet. 2011 Mar-Apr; 54(2):161-4.
Score: 0.017
-
Chondrodysplasia punctata associated with malabsorption from bariatric procedures. Surg Obes Relat Dis. 2010 Jan-Feb; 6(1):99-101.
Score: 0.016
-
Fine mapping of a locus for nonsyndromic mental retardation on chromosome 19p13. Am J Med Genet A. 2008 Jun 01; 146A(11):1414-22.
Score: 0.015
-
Paternal deletion 6q24.3: a new congenital anomaly syndrome associated with intrauterine growth failure, early developmental delay and characteristic facial appearance. Am J Med Genet A. 2008 Feb 01; 146A(3):354-60.
Score: 0.014
-
NSD1 analysis for Sotos syndrome: insights and perspectives from the clinical laboratory. Genet Med. 2005 Oct; 7(8):524-33.
Score: 0.012
-
Ophthalmoplegia in maple syrup urine disease. J AAPOS. 2003 Aug; 7(4):300-2.
Score: 0.010
-
Vertebral anomalies in a new family with ODED syndrome. Clin Genet. 2000 Jun; 57(6):444-8.
Score: 0.008
-
Clinic-based study of plexiform neurofibromas in neurofibromatosis 1. Am J Med Genet. 2000 May 15; 92(2):132-5.
Score: 0.008
-
Partial monosomy of distal 10q: three new cases and a review. Am J Med Genet. 1999 Sep 03; 86(1):1-5.
Score: 0.008
-
Methylmalonic aciduria (cblF): case report and response to therapy. Am J Med Genet. 1998 Oct 12; 79(5):373-5.
Score: 0.008
-
Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes. Genet Med. 2019 01; 21(1):195-206.
Score: 0.007
-
Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals. Genet Med. 2019 01; 21(1):233-242.
Score: 0.007
-
The natural history of phytosterolemia: Observations on its homeostasis. Atherosclerosis. 2018 02; 269:122-128.
Score: 0.007
-
The Effect of the Testis on the Ovary: Structure-Function Relationships in a Neonate with a Unilateral Ovotestis (Ovotesticular Disorder of Sex Development)?. Horm Res Paediatr. 2017; 87(3):205-212.
Score: 0.007
-
A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects. Neurogenetics. 2016 07; 17(3):173-8.
Score: 0.006
-
A 13-year old female with intractable seizures. Brain Pathol. 2015 Mar; 25(2):231-2.
Score: 0.006
-
Expanding the spectrum of microdeletion 4q21 syndrome: a partial phenotype with incomplete deletion of the minimal critical region and a new association with cleft palate and Pierre Robin sequence. Am J Med Genet A. 2013 Sep; 161A(9):2327-33.
Score: 0.005
-
Homozygous founder mutation in desmocollin-2 (DSC2) causes arrhythmogenic cardiomyopathy in the Hutterite population. Circ Cardiovasc Genet. 2013 Aug; 6(4):327-36.
Score: 0.005
-
Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability. Am J Hum Genet. 2013 Jul 11; 93(1):181-90.
Score: 0.005
-
Reciprocal deletion and duplication at 2q23.1 indicates a role for MBD5 in autism spectrum disorder. Eur J Hum Genet. 2014 Jan; 22(1):57-63.
Score: 0.005
-
An unusual case of an infant with failure to thrive. Pediatr Ann. 2012 Dec; 41(12):502-5.
Score: 0.005
-
Prenatal diagnostic conundrum involving a novel ATP7A duplication. Clin Genet. 2013 Jul; 84(1):97-8.
Score: 0.005
-
Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13. Hum Mol Genet. 2011 Apr 01; 20(7):1285-9.
Score: 0.004
-
Haploinsufficiency of TAB2 causes congenital heart defects in humans. Am J Hum Genet. 2010 Jun 11; 86(6):839-49.
Score: 0.004
-
SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome. Hum Mutat. 2009 Nov; 30(11):1535-42.
Score: 0.004
-
Sarcomere mutations in cardiomyopathy with left ventricular hypertrabeculation. Circ Cardiovasc Genet. 2009 Oct; 2(5):442-9.
Score: 0.004
-
Microphthalmia with linear skin defects: a case report and review. Pediatr Dermatol. 2008 Sep-Oct; 25(5):548-52.
Score: 0.004
-
A novel FKRP mutation in congenital muscular dystrophy disrupts the dystrophin glycoprotein complex. Neuromuscul Disord. 2007 Apr; 17(4):285-9.
Score: 0.003
-
Genotype-phenotype associations in Sotos syndrome: an analysis of 266 individuals with NSD1 aberrations. Am J Hum Genet. 2005 Aug; 77(2):193-204.
Score: 0.003
-
Calibration of 6q subtelomere deletions to define genotype/phenotype correlations. Clin Genet. 2005 May; 67(5):396-403.
Score: 0.003
-
Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome. J Med Genet. 2005 Apr; 42(4):307-13.
Score: 0.003
-
"Molecular rulers" for calibrating phenotypic effects of telomere imbalance. J Med Genet. 2002 Oct; 39(10):734-40.
Score: 0.002
-
Unique cardiac and cerebral anomalies with chondrodysplasia punctata. Am J Med Genet. 1998 Jan 06; 75(1):59-61.
Score: 0.002
-
Developmental regulation of expression of C-reactive protein and serum amyloid A in Syrian hamsters. Pediatr Res. 1991 Nov; 30(5):444-9.
Score: 0.001