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A Novel Mutation in FGFR3 Causes Camptodactyly, Tall Stature, and Hearing Loss (CATSHL) Syndrome

American journal of human genetics, 2006-11, Vol.79 (5), p.935-941

2006

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Mutations in Genes Encoding Fast-Twitch Contractile Proteins Cause Distal Arthrogryposis Syndromes

American journal of human genetics, 2003-03, Vol.72 (3), p.681-690

2003

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Mutations in TNNT3 Cause Multiple Congenital Contractures: A Second Locus for Distal Arthrogryposis Type 2B

American journal of human genetics, 2003-07, Vol.73 (1), p.212-214

2003

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Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome

Nature genetics, 1997-07, Vol.16 (3), p.311-315

1997

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Residual cholesterol synthesis and simvastatin induction of cholesterol synthesis in Smith–Lemli–Opitz syndrome fibroblasts

Molecular genetics and metabolism, 2005-06, Vol.85 (2), p.96-107

2005

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A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis

Nature genetics, 2003-04, Vol.33 (4), p.508-513

2003

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Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency

Human molecular genetics, 2003-07, Vol.12 (13), p.1631-1641

2003

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Association between selected folate pathway polymorphisms and nonsyndromic limb reduction defects: a case-parental analysis

Paediatric and perinatal epidemiology, 2011-03, Vol.25 (2), p.124-134

2011

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Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith-Lemli-Opitz syndrome

Human molecular genetics, 2001-03, Vol.10 (6), p.555-564

2001

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Arkansas Summer Research Institute: The Evolution of an Engaging Online Training Program in Data Analytics and Research Targeting Underrepresented Students in STEM

The Journal of STEM Outreach, 2024-02, Vol.7 (2)

2024

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Identification of nine novel DHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS)

Human mutation, 2005-07, Vol.26 (1), p.59-59

2005

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Identification of nine novelDHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS)

Human mutation, 2005-07, Vol.26 (1), p.59-59

2005

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Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G→C genotype

American journal of medical genetics, 2001-09, Vol.103 (1), p.75-80

2001

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Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: Polymerase chain reaction-based assays to simplify genotyping

American journal of medical genetics, 2000-09, Vol.94 (3), p.214-227

2000

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Adrenal insufficiency and hypertension in a newborn infant with Smith-Lemli-Opitz syndrome

American journal of medical genetics, 2001-10, Vol.103 (3), p.223-225

2001

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The most convenient method for the preparation of aliphatic cryptands

Tetrahedron letters, 1993-01, Vol.34 (5), p.777-778

1993

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Clinical analysis of a variant of Freeman-Sheldon syndrome (DA2B)

American journal of medical genetics, 1998-02, Vol.76 (1), p.93-98

1998

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Methods and Validation Techniques of Chemical Kinetics Models in Waste Thermal Conversion Processes

Energies (Basel), 2024-07, Vol.17 (13), p.3067

2024

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Biocompatibility of novel albumin-aldehyde surgical adhesive

Scientific reports, 2022-07, Vol.12 (1), p.12749-12749, Article 12749

2022

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ISO 10993 biological evaluation of novel hemostatic powder - 4SEAL

Biomaterials research, 2022-04, Vol.26 (1), p.12-12

2022

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Escherichia coli tRNA 2-Selenouridine Synthase (SelU): Elucidation of Substrate Specificity to Understand the Role of S -Geranyl-tRNA in the Conversion of 2-Thio- into 2-Selenouridines in Bacterial tRNA

Cells (Basel, Switzerland), 2022-05, Vol.11 (9), p.1522

2022

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Escherichia coli tRNA 2-selenouridine synthase SelU selects its prenyl substrate to accomplish its enzymatic function

Bioorganic chemistry, 2022-05, Vol.122, p.105739-105739, Article 105739

2022

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Microsatellite Diversity and the Demographic History of Modern Humans

Proceedings of the National Academy of Sciences - PNAS, 1997-04, Vol.94 (7), p.3100-3103

1997

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Risk factors associated with airway allergic diseases from exposure to laboratory animal allergens among veterinarians

International archives of occupational and environmental health, 2007-05, Vol.80 (6), p.465-475

2007

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Prevalence and host determinants of occupational bronchial asthma in animal shelter workers

International archives of occupational and environmental health, 2007-04, Vol.80 (5), p.423-432

2007

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A Novel Mutation in FGFR3 Causes Camptodactyly, Tall Stature, and Hearing Loss (CATSHL) Syndrome

Mutations in Genes Encoding Fast-Twitch Contractile Proteins Cause Distal Arthrogryposis Syndromes

Mutations in TNNT3 Cause Multiple Congenital Contractures: A Second Locus for Distal Arthrogryposis Type 2B

Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome

Residual cholesterol synthesis and simvastatin induction of cholesterol synthesis in Smith–Lemli–Opitz syndrome fibroblasts

A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis

Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency

Association between selected folate pathway polymorphisms and nonsyndromic limb reduction defects: a case-parental analysis

Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith-Lemli-Opitz syndrome

Arkansas Summer Research Institute: The Evolution of an Engaging Online Training Program in Data Analytics and Research Targeting Underrepresented Students in STEM

Identification of nine novel DHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS)

Identification of nine novelDHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS)

Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G→C genotype

Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: Polymerase chain reaction-based assays to simplify genotyping

Adrenal insufficiency and hypertension in a newborn infant with Smith-Lemli-Opitz syndrome

The most convenient method for the preparation of aliphatic cryptands

Clinical analysis of a variant of Freeman-Sheldon syndrome (DA2B)

Methods and Validation Techniques of Chemical Kinetics Models in Waste Thermal Conversion Processes

Biocompatibility of novel albumin-aldehyde surgical adhesive

ISO 10993 biological evaluation of novel hemostatic powder - 4SEAL

Escherichia coli tRNA 2-Selenouridine Synthase (SelU): Elucidation of Substrate Specificity to Understand the Role of S -Geranyl-tRNA in the Conversion of 2-Thio- into 2-Selenouridines in Bacterial tRNA

Escherichia coli tRNA 2-selenouridine synthase SelU selects its prenyl substrate to accomplish its enzymatic function

Microsatellite Diversity and the Demographic History of Modern Humans

Risk factors associated with airway allergic diseases from exposure to laboratory animal allergens among veterinarians

Prevalence and host determinants of occupational bronchial asthma in animal shelter workers

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