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Expanding the phenotype of DST‐related disorder: A case report suggesting a genotype/phenotype correlation
Expanding the phenotype of DST‐related disorder: A case report suggesting a genotype/phenotype correlation
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Expanding the phenotype of DST‐related disorder: A case report suggesting a genotype/phenotype correlation

Cappuccio, G. ; Pinelli, M. ; Torella, A. ; Alagia, M. ; Auricchio, R. ; Staiano, A. ; Nigro, V. ; Brunetti‐Pierri, N.

American journal of medical genetics. Part A, 2020-01, Vol.182 (1), p.268-268 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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2
Rubinstein–Taybi syndrome in diverse populations
Rubinstein–Taybi syndrome in diverse populations
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Rubinstein–Taybi syndrome in diverse populations

Tekendo‐Ngongang, Cedrik ; Owosela, Babajide ; Fleischer, Nicole ; Addissie, Yonit A. ; Malonga, Bryan ; Badoe, Ebenezer ; Gupta, Neerja ; Moresco, Angélica ; Huckstadt, Victoria ; Ashaat, Engy A. ; Hussen, Dalia Farouk ; Luk, Ho‐Ming ; Lo, Ivan F. M. ; Hon‐Yin Chung, Brian ; Fung, Jasmine L. F. ; Moretti‐Ferreira, Danilo ; Batista, Letícia Cassimiro ; Lotz‐Esquivel, Stephanie ; Saborio‐Rocafort, Manuel ; Badilla‐Porras, Ramses ; Penon Portmann, Monica ; Jones, Kelly L. ; Abdul‐Rahman, Omar A. ; Uwineza, Annette ; Prijoles, Eloise J. ; Ifeorah, Ifeanyi Kanayo ; Llamos Paneque, Arianne ; Sirisena, Nirmala D. ; Dowsett, Leah ; Lee, Sansan ; Cappuccio, Gerarda ; Kitchin, Carolyn Sian ; Diaz‐Kuan, Alicia ; Thong, Meow‐Keong ; Obregon, María Gabriela ; Mutesa, Leon ; Dissanayake, Vajira H. W. ; El Ruby, Mona O. ; Brunetti‐Pierri, Nicola ; Ekure, Ekanem Nsikak ; Stevenson, Roger E. ; Muenke, Maximilian ; Kruszka, Paul

American journal of medical genetics. Part A, 2020-12, Vol.182 (12), p.2939-2950 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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3
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus
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Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus

Sy, Mary R. ; Chauhan, Jaynee ; Prescott, Katrina ; Imam, Aliza ; Kraus, Alison ; Beleza, Ana ; Salkeld, Lee ; Hosdurga, Saraswati ; Parker, Michael ; Vasudevan, Pradeep ; Islam, Lily ; Goel, Himanshu ; Bain, Nicole ; Park, Soo‐Mi ; Mohammed, Shehla ; Dieterich, Klaus ; Coutton, Charles ; Satre, Véronique ; Vieville, Gaëlle ; Donaldson, Alan ; Beneteau, Claire ; Ghoumid, Jamal ; Van Den Bogaert, Kris ; Boogaerts, Anneleen ; Boudry, Elise ; Vanlerberghe, Clémence ; Petit, Florence ; Bernardini, Laura ; Torres, Barbara ; Mattina, Teresa ; Carli, Diana ; Mandrile, Giorgia ; Pinelli, Michele ; Brunetti‐Pierri, Nicola ; Neas, Katherine ; Beddow, Rachel ; Tørring, Pernille M. ; Faletra, Flavio ; Spedicati, Beatrice ; Gasparini, Paolo ; Mussa, Alessandro ; Ferrero, Giovanni Battista ; Lampe, Anne ; Lam, Wayne ; Bi, Weimin ; Bacino, Carlos A. ; Kuwahara, Akela ; Bush, Jeffrey O. ; Zhao, Xiaonan ; Luna, Pamela N. ; Shaw, Chad A. ; Rosenfeld, Jill A. ; Scott, Daryl A.

American journal of medical genetics. Part A, 2022-12, Vol.188 (12), p.3492-3504 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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4
Immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome, due to ZBTB24 mutations, presenting with large cerebral cyst
Immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome, due to ZBTB24 mutations, presenting with large cerebral cyst
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Immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome, due to ZBTB24 mutations, presenting with large cerebral cyst

Cerbone, Manuela ; Wang, Jun ; Van der Maarel, Silvère M. ; D'Amico, Alessandra ; D'Agostino, Antonio ; Romano, Alfonso ; Brunetti‐Pierri, Nicola

American journal of medical genetics. Part A, 2012-08, Vol.158A (8), p.2043-2046 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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5
Maternal vitamin K deficient embryopathy: Association with hyperemesis gravidarum and Crohn disease
Maternal vitamin K deficient embryopathy: Association with hyperemesis gravidarum and Crohn disease
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Maternal vitamin K deficient embryopathy: Association with hyperemesis gravidarum and Crohn disease

Toriello, Helga V. ; Erick, Miriam ; Alessandri, Jean‐Luc ; Bailey, Diana ; Brunetti‐Pierri, Nicola ; Cox, Helen ; Fryer, Alan ; Marty, Denise ; McCurdy, Charles ; Mulliken, John B. ; Murphy, Helen ; Omlor, Joseph ; Pauli, Richard M. ; Ranells, Judith D. ; Sanchez‐Valle, Amarillis ; Tobiasz, Ana ; Van Maldergem, Lionel ; Lin, Angela E.

American journal of medical genetics. Part A, 2013-03, Vol.161 (3), p.417-429 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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6
X-linked recessive chondrodysplasia punctata: Spectrum of arylsulfatase E gene mutations and expanded clinical variability
X-linked recessive chondrodysplasia punctata: Spectrum of arylsulfatase E gene mutations and expanded clinical variability
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X-linked recessive chondrodysplasia punctata: Spectrum of arylsulfatase E gene mutations and expanded clinical variability

Brunetti-Pierri, Nicola ; Andreucci, Maria Vittoria ; Tuzzi, Rosaria ; Vega, Giovanna Roberta ; Gray, George ; McKeown, Carol ; Ballabio, Andrea ; Andria, Generoso ; Meroni, Germana ; Parenti, Giancarlo

American journal of medical genetics, 2003-03, Vol.117A (2), p.164-168 [Periódico revisado por pares]

New York: Wiley Subscription Services, Inc., A Wiley Company

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7
Characterization of liver involvement in defects of cholesterol biosynthesis: Long-term follow-up and review
Characterization of liver involvement in defects of cholesterol biosynthesis: Long-term follow-up and review
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Characterization of liver involvement in defects of cholesterol biosynthesis: Long-term follow-up and review

Rossi, Massimiliano ; Vajro, Pietro ; Iorio, Raffaele ; Battagliese, Antonella ; Brunetti-Pierri, Nicola ; Corso, Gaetano ; Di Rocco, Maja ; Ferrari, Paola ; Rivasi, Francesco ; Vecchione, Raffaella ; Andria, Generoso ; Parenti, Giancarlo

American journal of medical genetics, 2005-01, Vol.132A (2), p.144-151 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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8
Terminal osseous dysplasia with pigmentary defects (TODPD): Follow‐up of the first reported family, characterization of the radiological phenotype, and refinement of the linkage region
Terminal osseous dysplasia with pigmentary defects (TODPD): Follow‐up of the first reported family, characterization of the radiological phenotype, and refinement of the linkage region
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Terminal osseous dysplasia with pigmentary defects (TODPD): Follow‐up of the first reported family, characterization of the radiological phenotype, and refinement of the linkage region

Brunetti‐Pierri, Nicola ; Lachman, Ralph ; Lee, Kwanghyuk ; Leal, Suzanne M. ; Piccolo, Pasquale ; Van Den Veyver, Ignatia B. ; Bacino, Carlos A.

American journal of medical genetics. Part A, 2010-07, Vol.152A (7), p.1825-1831 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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9
Premature thelarche in Coffin-Siris syndrome
Premature thelarche in Coffin-Siris syndrome
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Premature thelarche in Coffin-Siris syndrome

Brunetti-Pierri, Nicola ; Esposito, Valentina ; Salerno, Mariacarolina

American journal of medical genetics, 2003-08, Vol.121A (2), p.174-176 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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10
von Voss‐Cherstvoy syndrome with transient thrombocytopenia and normal psychomotor development
von Voss‐Cherstvoy syndrome with transient thrombocytopenia and normal psychomotor development
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von Voss‐Cherstvoy syndrome with transient thrombocytopenia and normal psychomotor development

Brunetti‐Pierri, Nicola ; Mendoza‐Londono, Roberto ; Shah, Maulik R. ; Karaviti, Lefkothea ; Lee, Brendan

American journal of medical genetics, 2004-04, Vol.126A (3), p.299-302 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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