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The spectrum of epilepsy and electroencephalographic abnormalities due to SHANK3 loss‐of‐function mutations
The spectrum of epilepsy and electroencephalographic abnormalities due to SHANK3 loss‐of‐function mutations
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The spectrum of epilepsy and electroencephalographic abnormalities due to SHANK3 loss‐of‐function mutations

Holder, J. Lloyd ; Quach, Michael M.

Epilepsia (Copenhagen), 2016-10, Vol.57 (10), p.1651-1659 [Periódico revisado por pares]

United States: Wiley Subscription Services, Inc

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2
A small sample confidence interval approach to assess individual bioequivalence
A small sample confidence interval approach to assess individual bioequivalence
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A small sample confidence interval approach to assess individual bioequivalence

Hyslop, Terry ; Hsuan, Francis ; Holder, Daniel J.

Statistics in medicine, 2000-10, Vol.19 (20), p.2885-2897 [Periódico revisado por pares]

Chichester, UK: John Wiley & Sons, Ltd

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3
Inflammation and Regeneration in the Dentin-Pulp Complex: A Double-edged Sword
Inflammation and Regeneration in the Dentin-Pulp Complex: A Double-edged Sword
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Inflammation and Regeneration in the Dentin-Pulp Complex: A Double-edged Sword

Cooper, Paul R., BSc ; Holder, Michelle J., BSc ; Smith, Anthony J., BSc, PhD

Journal of endodontics, 2014-04, Vol.40 (4), p.S46-S51 [Periódico revisado por pares]

United States: Elsevier Inc

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4
The first international conference on SYNGAP1-related brain disorders: a stakeholder meeting of families, researchers, clinicians, and regulators
The first international conference on SYNGAP1-related brain disorders: a stakeholder meeting of families, researchers, clinicians, and regulators
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The first international conference on SYNGAP1-related brain disorders: a stakeholder meeting of families, researchers, clinicians, and regulators

Weldon, Monica ; Kilinc, Murat ; Lloyd Holder, Jr, J ; Rumbaugh, Gavin

Journal of neurodevelopmental disorders, 2018-02, Vol.10 (1), p.6-6, Article 6 [Periódico revisado por pares]

England: BioMed Central Ltd

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5
Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations
Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations
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Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations

De Rubeis, Silvia ; Siper, Paige M ; Durkin, Allison ; Weissman, Jordana ; Muratet, François ; Halpern, Danielle ; Trelles, Maria Del Pilar ; Frank, Yitzchak ; Lozano, Reymundo ; Wang, A Ting ; Holder, Jr, J Lloyd ; Betancur, Catalina ; Buxbaum, Joseph D ; Kolevzon, Alexander

Molecular autism, 2018-04, Vol.9 (1), p.31-20, Article 31 [Periódico revisado por pares]

England: BioMed Central

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6
Social behavioral impairments in SYNGAP1 -related intellectual disability
Social behavioral impairments in SYNGAP1 -related intellectual disability
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Social behavioral impairments in SYNGAP1 -related intellectual disability

Naveed, Hajer ; McCormack, Maria ; Holder, Jr, J Lloyd

Frontiers in pediatrics, 2023-11, Vol.11, p.1188117-1188117 [Periódico revisado por pares]

Switzerland: Frontiers Media S.A

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7
Phenotypic characterization of individuals with SYNGAP1 pathogenic variants reveals a potential correlation between posterior dominant rhythm and developmental progression
Phenotypic characterization of individuals with SYNGAP1 pathogenic variants reveals a potential correlation between posterior dominant rhythm and developmental progression
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Phenotypic characterization of individuals with SYNGAP1 pathogenic variants reveals a potential correlation between posterior dominant rhythm and developmental progression

Jimenez-Gomez, Andres ; Niu, Sizhe ; Andujar-Perez, Fabiola ; McQuade, Elizabeth A ; Balasa, Alfred ; Huss, David ; Coorg, Rohini ; Quach, Michael ; Vinson, Sherry ; Risen, Sarah ; Holder, Jr, J Lloyd

Journal of neurodevelopmental disorders, 2019-08, Vol.11 (1), p.18-18, Article 18 [Periódico revisado por pares]

England: BioMed Central Ltd

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8
Sleep Abnormalities in the Synaptopathies—SYNGAP1-Related Intellectual Disability and Phelan–McDermid Syndrome
Sleep Abnormalities in the Synaptopathies—SYNGAP1-Related Intellectual Disability and Phelan–McDermid Syndrome
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Sleep Abnormalities in the Synaptopathies—SYNGAP1-Related Intellectual Disability and Phelan–McDermid Syndrome

Smith-Hicks, Constance ; Wright, Damien ; Kenny, Aisling ; Stowe, Robert C. ; McCormack, Maria ; Stanfield, Andrew C. ; Holder, J. Lloyd

Brain sciences, 2021-09, Vol.11 (9), p.1229 [Periódico revisado por pares]

Basel: MDPI AG

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9
Lower limb joint loading in patients with unilateral hip osteoarthritis during bipedal stance and the effect of total hip replacement
Lower limb joint loading in patients with unilateral hip osteoarthritis during bipedal stance and the effect of total hip replacement
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Lower limb joint loading in patients with unilateral hip osteoarthritis during bipedal stance and the effect of total hip replacement

van Drongelen, S ; Holder, J ; Stief, F

Frontiers in bioengineering and biotechnology, 2023-06, Vol.11, p.1190712-1190712 [Periódico revisado por pares]

Switzerland: Frontiers Media S.A

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10
TBC1D24 genotype–phenotype correlation: Epilepsies and other neurologic features
TBC1D24 genotype–phenotype correlation: Epilepsies and other neurologic features
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TBC1D24 genotype–phenotype correlation: Epilepsies and other neurologic features

Balestrini, Simona ; Milh, Mathieu ; Castiglioni, Claudia ; Lüthy, Kevin ; Finelli, Mattea J ; Verstreken, Patrik ; Cardon, Aaron ; Stražišar, Barbara Gnidovec ; Holder, J Lloyd ; Lesca, Gaetan ; Mancardi, Maria M ; Poulat, Anne L ; Repetto, Gabriela M ; Banka, Siddharth ; Bilo, Leonilda ; Birkeland, Laura E ; Bosch, Friedrich ; Brockmann, Knut ; Cross, J Helen ; Doummar, Diane ; Félix, Temis M ; Giuliano, Fabienne ; Hori, Mutsuki ; Hüning, Irina ; Kayserili, Hulia ; Kini, Usha ; Lees, Melissa M ; Meenakshi, Girish ; Mewasingh, Leena ; Pagnamenta, Alistair T ; Peluso, Silvio ; Mey, Antje ; Rice, Gregory M ; Rosenfeld, Jill A ; Taylor, Jenny C ; Troester, Matthew M ; Stanley, Christine M ; Ville, Dorothee ; Walkiewicz, Magdalena ; Falace, Antonio ; Fassio, Anna ; Lemke, Johannes R ; Biskup, Saskia ; Tardif, Jessica ; Ajeawung, Norbert F ; Tolun, Aslihan ; Corbett, Mark ; Gecz, Jozef ; Afawi, Zaid ; Howell, Katherine B ; Oliver, Karen L ; Berkovic, Samuel F ; Scheffer, Ingrid E ; de Falco, Fabrizio A ; Oliver, Peter L ; Striano, Pasquale ; Zara, Federico ; Campeau, Phillipe M ; Sisodiya, S.M

Neurology, 2016-07, Vol.87 (1), p.77-85 [Periódico revisado por pares]

United States: American Academy of Neurology

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