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Recurrent abdominal pain in children: a long term follow-up
Recurrent abdominal pain in children: a long term follow-up
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Recurrent abdominal pain in children: a long term follow-up

MAGNI, G ; PIERRI, M ; DONZELLI, F

European journal of pediatrics, 1987, Vol.146 (1), p.72-74 [Periódico revisado por pares]

Heidelberg: Springer

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2
Family-Based Genetic Association for Molar-Incisor Hypomineralization
Family-Based Genetic Association for Molar-Incisor Hypomineralization
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Family-Based Genetic Association for Molar-Incisor Hypomineralization

Jeremias, Fabiano ; Pierri, Ricardo A.G. ; Souza, Juliana F. ; Fragelli, Camila Maria B. ; Restrepo, Manuel ; Finoti, Livia S. ; Bussaneli, Diego G. ; Cordeiro, Rita C.L. ; Secolin, Rodrigo ; Maurer-Morelli, Claudia V. ; Scarel-Caminaga, Raquel M. ; Santos-Pinto, Lourdes

Caries research, 2016-06, Vol.50 (3), p.310-318 [Periódico revisado por pares]

Basel, Switzerland: S. Karger AG

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3
FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability
FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability
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FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability

Schneider, Amy L. ; Myers, Candace T. ; Muir, Alison M. ; Calvert, Sophie ; Basinger, Alice ; Perry, M. Scott ; Rodan, Lance ; Helbig, Katherine L. ; Chambers, Chelsea ; Gorman, Kathleen M. ; King, Mary D. ; Donkervoort, Sandra ; Soldatos, Ariane ; Bönnemann, Carsten G. ; Spataro, Nino ; Gabau, Elisabeth ; Arellano, Montserrat ; Cappuccio, Gerarda ; Brunetti‐Pierri, Nicola ; Rossignol, Elsa ; Hamdan, Fadi F. ; Michaud, Jacques L. ; Balak, Christopher ; Mefford, Heather C. ; Scheffer, Ingrid E.

Epilepsia (Copenhagen), 2021-01, Vol.62 (1), p.e13-e21 [Periódico revisado por pares]

United States: Wiley Subscription Services, Inc

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4
SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiency
SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiency
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SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiency

Punzi, Giuseppe ; Porcelli, Vito ; Ruggiu, Matteo ; Hossain, Md F ; Menga, Alessio ; Scarcia, Pasquale ; Castegna, Alessandra ; Gorgoglione, Ruggiero ; Pierri, Ciro L ; Laera, Luna ; Lasorsa, Francesco M ; Paradies, Eleonora ; Pisano, Isabella ; Marobbio, Carlo M T ; Lamantea, Eleonora ; Ghezzi, Daniele ; Tiranti, Valeria ; Giannattasio, Sergio ; Donati, Maria A ; Guerrini, Renzo ; Palmieri, Luigi ; Palmieri, Ferdinando ; De Grassi, Anna

Human molecular genetics, 2018-02, Vol.27 (3), p.499-504 [Periódico revisado por pares]

England: Oxford University Press

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5
Multiple gut–liver axis abnormalities in children with obesity with and without hepatic involvement
Multiple gut–liver axis abnormalities in children with obesity with and without hepatic involvement
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Multiple gut–liver axis abnormalities in children with obesity with and without hepatic involvement

Guercio Nuzio, S. ; Di Stasi, M. ; Pierri, L. ; Troisi, J. ; Poeta, M. ; Bisogno, A. ; Belmonte, F. ; Tripodi, M. ; Di Salvio, D. ; Massa, G. ; Savastano, R. ; Cavallo, P. ; Boffardi, M. ; Ziegenhardt, D. ; Bergheim, I. ; Mandato, C. ; Vajro, P.

Pediatric obesity, 2017-12, Vol.12 (6), p.446-452 [Periódico revisado por pares]

England: Wiley Subscription Services, Inc

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6
De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia
De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia
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De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia

Haijes, Hanneke A. ; Koster, Maria J.E. ; Rehmann, Holger ; Li, Dong ; Hakonarson, Hakon ; Cappuccio, Gerarda ; Hancarova, Miroslava ; Lehalle, Daphne ; Reardon, Willie ; Schaefer, G. Bradley ; Lehman, Anna ; van de Laar, Ingrid M.B.H. ; Tesselaar, Coranne D. ; Turner, Clesson ; Goldenberg, Alice ; Patrier, Sophie ; Thevenon, Julien ; Pinelli, Michele ; Brunetti-Pierri, Nicola ; Prchalová, Darina ; Havlovicová, Markéta ; Vlckova, Markéta ; Sedláček, Zdeněk ; Lopez, Elena ; Ragoussis, Vassilis ; Pagnamenta, Alistair T. ; Kini, Usha ; Vos, Harmjan R. ; van Es, Robert M. ; van Schaik, Richard F.M.A. ; van Essen, Ton A.J. ; Kibaek, Maria ; Taylor, Jenny C. ; Sullivan, Jennifer ; Shashi, Vandana ; Petrovski, Slave ; Fagerberg, Christina ; Martin, Donna M. ; van Gassen, Koen L.I. ; Pfundt, Rolph ; Falk, Marni J. ; McCormick, Elizabeth M. ; Timmers, H.T. Marc ; van Hasselt, Peter M.

American journal of human genetics, 2019-08, Vol.105 (2), p.283-301 [Periódico revisado por pares]

United States: Elsevier Inc

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7
Behavioral Symptoms of Reported Abuse in Children and Adolescents with Autism Spectrum Disorder in Inpatient Settings
Behavioral Symptoms of Reported Abuse in Children and Adolescents with Autism Spectrum Disorder in Inpatient Settings
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Behavioral Symptoms of Reported Abuse in Children and Adolescents with Autism Spectrum Disorder in Inpatient Settings

Brenner, Jamie ; Pan, Zhaoxing ; Mazefsky, Carla ; Smith, Kahsi A. ; Gabriels, Robin

Journal of autism and developmental disorders, 2018-11, Vol.48 (11), p.3727-3735 [Periódico revisado por pares]

New York: Springer US

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8
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis
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Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis

Magini, Pamela ; Smits, Daphne J. ; Vandervore, Laura ; Schot, Rachel ; Columbaro, Marta ; Kasteleijn, Esmee ; van der Ent, Mees ; Palombo, Flavia ; Lequin, Maarten H. ; Dremmen, Marjolein ; de Wit, Marie Claire Y. ; Severino, Mariasavina ; Divizia, Maria Teresa ; Striano, Pasquale ; Ordonez-Herrera, Natalia ; Alhashem, Amal ; Al Fares, Ahmed ; Al Ghamdi, Malak ; Rolfs, Arndt ; Bauer, Peter ; Demmers, Jeroen ; Verheijen, Frans W. ; Wilke, Martina ; van Slegtenhorst, Marjon ; van der Spek, Peter J. ; Seri, Marco ; Jansen, Anna C. ; Stottmann, Rolf W. ; Hufnagel, Robert B. ; Hopkin, Robert J. ; Aljeaid, Deema ; Wiszniewski, Wojciech ; Gawlinski, Pawel ; Laure-Kamionowska, Milena ; Alkuraya, Fowzan S. ; Akleh, Hanah ; Stanley, Valentina ; Musaev, Damir ; Gleeson, Joseph G. ; Zaki, Maha S. ; Brunetti-Pierri, Nicola ; Cappuccio, Gerarda ; Davidov, Bella ; Basel-Salmon, Lina ; Bazak, Lily ; Shahar, Noa Ruhrman ; Bertoli-Avella, Aida ; Mirzaa, Ghayda M. ; Dobyns, William B. ; Pippucci, Tommaso ; Fornerod, Maarten ; Mancini, Grazia M.S.

American journal of human genetics, 2019-10, Vol.105 (4), p.689-705 [Periódico revisado por pares]

United States: Elsevier Inc

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9
Problem Behaviors in Autism Spectrum Disorder: Association with Verbal Ability and Adapting/Coping Skills
Problem Behaviors in Autism Spectrum Disorder: Association with Verbal Ability and Adapting/Coping Skills
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Problem Behaviors in Autism Spectrum Disorder: Association with Verbal Ability and Adapting/Coping Skills

Williams, Diane L. ; Siegel, Matthew ; Mazefsky, Carla A.

Journal of autism and developmental disorders, 2018-11, Vol.48 (11), p.3668-3677 [Periódico revisado por pares]

New York: Springer US

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10
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities
Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities
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Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities

Patel, Ankita ; Brunetti-Pierri, Nicola ; Berg, Jonathan S ; Scaglia, Fernando ; Belmont, John ; Bacino, Carlos A ; Sahoo, Trilochan ; Lalani, Seema R ; Graham, Brett ; Lee, Brendan ; Shinawi, Marwan ; Shen, Joseph ; Kang, Sung-Hae L ; Pursley, Amber ; Lotze, Timothy ; Kennedy, Gail ; Lansky-Shafer, Susan ; Weaver, Christine ; Roeder, Elizabeth R ; Grebe, Theresa A ; Arnold, Georgianne L ; Hutchison, Terry ; Reimschisel, Tyler ; Amato, Stephen ; Geragthy, Michael T ; Innis, Jeffrey W ; Obersztyn, Ewa ; Nowakowska, Beata ; Rosengren, Sally S ; Bader, Patricia I ; Grange, Dorothy K ; Naqvi, Sayed ; Garnica, Adolfo D ; Bernes, Saunder M ; Fong, Chin-To ; Summers, Anne ; Walters, W David ; Lupski, James R ; Stankiewicz, Pawel ; Cheung, Sau Wai

Nature genetics, 2008-12, Vol.40 (12), p.1466-1471 [Periódico revisado por pares]

United States: Nature Publishing Group

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