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"Electrifying dysmorphology": Potassium channelopathies causing dysmorphic syndromes
"Electrifying dysmorphology": Potassium channelopathies causing dysmorphic syndromes
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"Electrifying dysmorphology": Potassium channelopathies causing dysmorphic syndromes

Hamilton, Mark James ; Suri, Mohnish

Advances in genetics, 2020, Vol.105, p.137-174 [Periódico revisado por pares]

United States

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Programmed Sustained Release of Recombinant Human Bone Morphogenetic Protein‑2 and Inorganic Ion Composite Hydrogel as Artificial Periosteum
Programmed Sustained Release of Recombinant Human Bone Morphogenetic Protein‑2 and Inorganic Ion Composite Hydrogel as Artificial Periosteum
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Programmed Sustained Release of Recombinant Human Bone Morphogenetic Protein‑2 and Inorganic Ion Composite Hydrogel as Artificial Periosteum

Xin, Tianwen ; Mao, Jiannan ; Liu, Lili ; Tang, Jincheng ; Wu, Liang ; Yu, Xiaohua ; Gu, Yong ; Cui, Wenguo ; Chen, Liang

ACS applied materials & interfaces, 2020-02, Vol.12 (6), p.6840-6851 [Periódico revisado por pares]

United States: American Chemical Society

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3
Increasing histone acetylation improves sociability and restores learning and memory in KAT6B-haploinsufficient mice
Increasing histone acetylation improves sociability and restores learning and memory in KAT6B-haploinsufficient mice
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Increasing histone acetylation improves sociability and restores learning and memory in KAT6B-haploinsufficient mice

Bergamasco, Maria I ; Vanyai, Hannah K ; Garnham, Alexandra L ; Geoghegan, Niall D ; Vogel, Adam P ; Eccles, Samantha ; Rogers, Kelly L ; Smyth, Gordon K ; Blewitt, Marnie E ; Hannan, Anthony J ; Thomas, Tim ; Voss, Anne K

The Journal of clinical investigation, 2024-04, Vol.134 (7), p.1-20 [Periódico revisado por pares]

United States: American Society for Clinical Investigation

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4
Homozygosity for Frameshift Mutations in XYLT2 Result in a Spondylo-Ocular Syndrome with Bone Fragility, Cataracts, and Hearing Defects
Homozygosity for Frameshift Mutations in XYLT2 Result in a Spondylo-Ocular Syndrome with Bone Fragility, Cataracts, and Hearing Defects
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Homozygosity for Frameshift Mutations in XYLT2 Result in a Spondylo-Ocular Syndrome with Bone Fragility, Cataracts, and Hearing Defects

Munns, Craig F. ; Fahiminiya, Somayyeh ; Poudel, Nabin ; Munteanu, Maria Cristina ; Majewski, Jacek ; Sillence, David O. ; Metcalf, Jordan P. ; Biggin, Andrew ; Glorieux, Francis ; Fassier, François ; Rauch, Frank ; Hinsdale, Myron E.

American journal of human genetics, 2015-06, Vol.96 (6), p.971-978 [Periódico revisado por pares]

United States: Elsevier Inc

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5
Growth and Clinical Characteristics of Children with Floating-Harbor Syndrome: Analysis of Current Original Data and a Review of the Literature
Growth and Clinical Characteristics of Children with Floating-Harbor Syndrome: Analysis of Current Original Data and a Review of the Literature
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Growth and Clinical Characteristics of Children with Floating-Harbor Syndrome: Analysis of Current Original Data and a Review of the Literature

Homma, Thais K. ; Freire, Bruna L. ; Honjo, Rachel ; Dauber, Andrew ; Funari, Mariana F.A. ; Lerario, Antonio M. ; Albuquerque, Edoarda V.A. ; Vasques, Gabriela A. ; Bertola, Debora R. ; Kim, Chong A. ; Malaquias, Alexsandra C. ; Jorge, Alexander A.L.

Hormone research in paediatrics, 2020-01, Vol.92 (2), p.115-123 [Periódico revisado por pares]

Basel, Switzerland

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6
Gomez–López–Hernández syndrome: A case report with clinical and molecular evaluation and literature review
Gomez–López–Hernández syndrome: A case report with clinical and molecular evaluation and literature review
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Gomez–López–Hernández syndrome: A case report with clinical and molecular evaluation and literature review

Perrone, Eduardo ; D'Almeida, Vânia ; Macena Sobreira, Nara Lygia ; Mello, Claudia Berlim ; Oliveira, Allan Chiaratti ; Burlin, Stênio ; Soares, Maria de Fátima de Faria ; Cernach, Mirlene Cecília Soares Pinho ; Alvarez Perez, Ana Beatriz

American journal of medical genetics. Part A, 2020-07, Vol.182 (7), p.1761-1766 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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7
Inhibition of histone deacetylation rescues phenotype in a mouse model of Birk-Barel intellectual disability syndrome
Inhibition of histone deacetylation rescues phenotype in a mouse model of Birk-Barel intellectual disability syndrome
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Inhibition of histone deacetylation rescues phenotype in a mouse model of Birk-Barel intellectual disability syndrome

Cooper, Alexis ; Butto, Tamer ; Hammer, Niklas ; Jagannath, Somanath ; Fend-Guella, Desiree Lucia ; Akhtar, Junaid ; Radyushkin, Konstantin ; Lesage, Florian ; Winter, Jennifer ; Strand, Susanne ; Roeper, Jochen ; Zechner, Ulrich ; Schweiger, Susann

Nature communications, 2020-01, Vol.11 (1), p.480-14, Article 480 [Periódico revisado por pares]

England: Nature Publishing Group

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8
Duplication of the Pituitary Gland (DPG)-Plus Syndrome Associated With Midline Anomalies and Precocious Puberty: A Case Report and Review of the Literature
Duplication of the Pituitary Gland (DPG)-Plus Syndrome Associated With Midline Anomalies and Precocious Puberty: A Case Report and Review of the Literature
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Duplication of the Pituitary Gland (DPG)-Plus Syndrome Associated With Midline Anomalies and Precocious Puberty: A Case Report and Review of the Literature

Prezioso, Giovanni ; Petraroli, Maddalena ; Bergonzani, Michela ; Davino, Giusy ; Labate, Marialuisa ; Ormitti, Francesca ; Anghinoni, Marilena ; Sesenna, Enrico ; Esposito, Susanna

Frontiers in endocrinology (Lausanne), 2021-05, Vol.12, p.685888-685888 [Periódico revisado por pares]

Switzerland: Frontiers Media S.A

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9
Epilepsy in KCNH1‐related syndromes
Epilepsy in KCNH1‐related syndromes
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Epilepsy in KCNH1‐related syndromes

Mastrangelo, Mario ; Scheffer, Ingrid E. ; Bramswig, Nuria C. ; Nair, Lal. D.V. ; Myers, Candace T. ; Dentici, Maria Lisa ; Korenke, Georg C. ; Schoch, Kelly ; Campeau, Philippe M. ; White, Susan M. ; Shashi, Vandana ; Kansagra, Sujay ; Van Essen, Anthonie J. ; Leuzzi, Vincenzo

Epileptic disorders, 2016-06, Vol.18 (2), p.123-136 [Periódico revisado por pares]

France: Wiley Subscription Services, Inc

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10
Sleep Disturbance as a Precursor of Severe Regression in Kleefstra Syndrome Suggests a Need for Firm and Rapid Pharmacological Treatment
Sleep Disturbance as a Precursor of Severe Regression in Kleefstra Syndrome Suggests a Need for Firm and Rapid Pharmacological Treatment
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Sleep Disturbance as a Precursor of Severe Regression in Kleefstra Syndrome Suggests a Need for Firm and Rapid Pharmacological Treatment

Vermeulen, Karlijn ; Staal, Wouter G ; Janzing, Joost G ; van Bokhoven, Hans ; Egger, Jos I M ; Kleefstra, Tjitske

Clinical neuropharmacology, 2017-07, Vol.40 (4), p.185-188 [Periódico revisado por pares]

United States

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