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11
Skeletal and hematological anomalies in HYAL2-deficient mice: a second type of mucopolysaccharidosis IX?
Skeletal and hematological anomalies in HYAL2-deficient mice: a second type of mucopolysaccharidosis IX?
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Skeletal and hematological anomalies in HYAL2-deficient mice: a second type of mucopolysaccharidosis IX?

Jadin, Laurence ; Wu, Xiaoli ; Ding, Hao ; Frost, Gregory I ; Onclinx, Cécile ; Triggs-Raine, Barbara ; Flamion, Bruno

The FASEB journal, 2008-12, Vol.22 (12), p.4316-4326 [Revista revisada por pares]

United States: The Federation of American Societies for Experimental Biology

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12
A unique anomaly of the ear: Oculo‐auriculo‐vertebral spectrum or an isolated disruption?
A unique anomaly of the ear: Oculo‐auriculo‐vertebral spectrum or an isolated disruption?
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A unique anomaly of the ear: Oculo‐auriculo‐vertebral spectrum or an isolated disruption?

Theunissen, Eleonoor A. R. ; Hoogslag, Isabella C. M. ; Spronsen, Erik ; Oostra, Roelof J. ; Ebbens, Fenna A.

The Laryngoscope, 2018-08, Vol.128 (8), p.1927-1931 [Revista revisada por pares]

United States: Wiley Subscription Services, Inc

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13
High-Resolution Modeling Assisted Design of Customized and Individualized Transcranial Direct Current Stimulation Protocols
High-Resolution Modeling Assisted Design of Customized and Individualized Transcranial Direct Current Stimulation Protocols
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High-Resolution Modeling Assisted Design of Customized and Individualized Transcranial Direct Current Stimulation Protocols

Bikson, Marom ; Rahman, Asif ; Datta, Abhishek ; Fregni, Felipe ; Merabet, Lotfi

Neuromodulation (Malden, Mass.), 2012-07, Vol.15 (4), p.306-315 [Revista revisada por pares]

Malden, USA: Blackwell Publishing Inc

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14
Nell‐1, a key functional mediator of Runx2, partially rescues calvarial defects in Runx2+/− mice
Nell‐1, a key functional mediator of Runx2, partially rescues calvarial defects in Runx2+/− mice
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Nell‐1, a key functional mediator of Runx2, partially rescues calvarial defects in Runx2+/− mice

Zhang, Xinli ; Ting, Kang ; Bessette, Catherine M ; Culiat, Cymbeline T ; Sung, Sang Jin ; Lee, Haofu ; Chen, Feng ; Shen, Jia ; Wang, James J ; Kuroda, Shun'ichi ; Soo, Chia

Journal of bone and mineral research, 2011-04, Vol.26 (4), p.777-791 [Revista revisada por pares]

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

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15
Cranial base abnormalities in osteogenesis imperfecta: Phenotypic and genotypic determinants
Cranial base abnormalities in osteogenesis imperfecta: Phenotypic and genotypic determinants
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Cranial base abnormalities in osteogenesis imperfecta: Phenotypic and genotypic determinants

Cheung, Moira S ; Arponen, Heidi ; Roughley, Peter ; Azouz, Michel E ; Glorieux, Francis H ; Waltimo‐Sirén, Janna ; Rauch, Frank

Journal of bone and mineral research, 2011-02, Vol.26 (2), p.405-413 [Revista revisada por pares]

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

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16
Squamous suture obliteration: frequency and investigation of the associated skull morphology
Squamous suture obliteration: frequency and investigation of the associated skull morphology
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Squamous suture obliteration: frequency and investigation of the associated skull morphology

Nikolova, Silviya ; Toneva, Diana ; Lazarov, Nikolai

Anatomical science international, 2021, Vol.96 (1), p.42-54 [Revista revisada por pares]

Singapore: Springer Singapore

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17
Biallelic mutations in CYP26B1: A differential diagnosis for Pfeiffer and Antley-Bixler syndromes
Biallelic mutations in CYP26B1: A differential diagnosis for Pfeiffer and Antley-Bixler syndromes
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Biallelic mutations in CYP26B1: A differential diagnosis for Pfeiffer and Antley-Bixler syndromes

Morton, Jenny E. V. ; Frentz, Sophia ; Morgan, Tim ; Sutherland-Smith, Andrew J. ; Robertson, Stephen P.

American journal of medical genetics. Part A, 2016-10, Vol.170A (10), p.2706-2710 [Revista revisada por pares]

United States: Blackwell Publishing Ltd

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18
Ae2(a,b)-deficient mice exhibit osteopetrosis of long bones but not of calvaria
Ae2(a,b)-deficient mice exhibit osteopetrosis of long bones but not of calvaria
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Ae2(a,b)-deficient mice exhibit osteopetrosis of long bones but not of calvaria

Jansen, Ineke D C ; Mardones, Pablo ; Lecanda, Fernando ; de Vries, Teun J ; Recalde, Sergio ; Hoeben, Kees A ; Schoenmaker, Ton ; Ravesloot, Jan-Hindrik ; van Borren, Marcel M G J ; van Eijden, Theo M ; Bronckers, Antonius L J J ; Kellokumpu, Sakari ; Medina, Juan F ; Everts, Vincent ; Oude Elferink, Ronald P J

The FASEB journal, 2009-10, Vol.23 (10), p.3470-3481 [Revista revisada por pares]

United States

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19
Extension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratoma
Extension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratoma
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Extension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratoma

Blackburn, Patrick R. ; Chacon‐Camacho, Oscar F. ; Ortiz‐González, Xilma R. ; Reyes, Mariana ; Lopez‐Uriarte, Graciela A. ; Zarei, Shabnam ; Bhoj, Elizabeth J. ; Perez‐Solorzano, Sofia ; Vaubel, Rachael A. ; Murphree, Marine I. ; Nava, Jessica ; Cortes‐Gonzalez, Vianney ; Parisi, Joseph E. ; Villanueva‐Mendoza, Cristina ; Tirado‐Torres, Iris G. ; Li, Dong ; Klee, Eric W. ; Pichurin, Pavel N. ; Zenteno, Juan C.

American journal of medical genetics. Part A, 2018-12, Vol.176 (12), p.2710-2719 [Revista revisada por pares]

Hoboken, USA: John Wiley & Sons, Inc

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20
Risk of ultrasound‐detected neonatal brain abnormalities in intrauterine growth‐restricted fetuses born between 28 and 34 weeks' gestation: relationship with gestational age at birth and fetal Doppler parameters
Risk of ultrasound‐detected neonatal brain abnormalities in intrauterine growth‐restricted fetuses born between 28 and 34 weeks' gestation: relationship with gestational age at birth and fetal Doppler parameters
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Risk of ultrasound‐detected neonatal brain abnormalities in intrauterine growth‐restricted fetuses born between 28 and 34 weeks' gestation: relationship with gestational age at birth and fetal Doppler parameters

Cruz‐Martinez, R. ; Tenorio, V. ; Padilla, N. ; Crispi, F. ; Figueras, F. ; Gratacos, E.

Ultrasound in obstetrics & gynecology, 2015-10, Vol.46 (4), p.452-459 [Revista revisada por pares]

Chichester, UK: John Wiley & Sons, Ltd

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