Heidi Cope

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Genetic evaluation and application of posterior cranial fossa traits as endophenotypes for Chiari type I malformation

Parent perspectives following newborn screening resulting in diagnoses of fragile X syndrome or fragile X premutation

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder

SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia

A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network

Treatment of profound thrombocytopenia in a patient with Gaucher disease type 1: Is there a role for substrate reduction therapy

Two years of newborn screening for Duchenne Muscular Dystrophy as a part of the statewide Early Check research program in North Carolina

Phenotypic homogeneity provides increased support for linkage on chromosome 2 in autistic disorder

No association between the WNT2 gene and autistic disorder

Joint eQTL assessment of whole blood and dura mater tissue from individuals with Chiari type I malformation.

Psychosocial profiles of parents of children with undiagnosed diseases: Managing well or just managing?

Diagnosis of TBC1D32-associated conditions: Expanding the phenotypic spectrum of a complex ciliopathy

Novel approaches to quantify CNS involvement in children with Pompe disease

Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegia

A humanized Caenorhabditis elegans model of Hereditary Spastic Paraplegia associated variants in kinesin light chain KLC4

Early-onset of symptoms and clinical course of Pompe disease associated with the c.-32-13 T > G variant

P497: Two years of newborn screening for Duchenne Muscular Dystrophy in North Carolina:: Results from Early Check*

De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis

Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy

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Heidi Cope

Genetic evaluation and application of posterior cranial fossa traits as endophenotypes for Chiari type I malformation

Parent perspectives following newborn screening resulting in diagnoses of fragile X syndrome or fragile X premutation

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder

SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia

A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network

Treatment of profound thrombocytopenia in a patient with Gaucher disease type 1: Is there a role for substrate reduction therapy

Two years of newborn screening for Duchenne Muscular Dystrophy as a part of the statewide Early Check research program in North Carolina

Phenotypic homogeneity provides increased support for linkage on chromosome 2 in autistic disorder

No association between the WNT2 gene and autistic disorder

Joint eQTL assessment of whole blood and dura mater tissue from individuals with Chiari type I malformation.

Psychosocial profiles of parents of children with undiagnosed diseases: Managing well or just managing?

Diagnosis of TBC1D32-associated conditions: Expanding the phenotypic spectrum of a complex ciliopathy

Novel approaches to quantify CNS involvement in children with Pompe disease

Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegia

A humanized Caenorhabditis elegans model of Hereditary Spastic Paraplegia associated variants in kinesin light chain KLC4

Early-onset of symptoms and clinical course of Pompe disease associated with the c.-32-13 T &gt; G variant

P497: Two years of newborn screening for Duchenne Muscular Dystrophy in North Carolina:: Results from Early Check*

De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis

Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy

Early-onset of symptoms and clinical course of Pompe disease associated with the c.-32-13 T > G variant