| 1 |
Clinical and Genetic Characteristics of Finnish Patients with Autosomal Recessive and Dominant Non-Syndromic Hearing Loss Due to Pathogenic TMC1 Variants
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In: Journal of Clinical Medicine; Volume 11; Issue 7; Pages: 1837 (2022)
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| 2 |
Expanding the Phenotype of B3GALNT2-Related Disorders
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In: Genes; Volume 13; Issue 4; Pages: 694 (2022)
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| 3 |
Relationship between Behavioral Infant Speech Perception and Hearing Age for Children with Hearing Loss
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In: Journal of Clinical Medicine ; Volume 10 ; Issue 19 (2021)
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| 4 |
Detección precoz de la hipoacusia, influencia en el diagnóstico y en el tratamiento temprano
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| 5 |
DYT-TUBB4A (DYT4 Dystonia): New Clinical and Genetic Observations.
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In: Neurology, vol. 96, no. 14, pp. e1887-e1897 (2021)
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| 6 |
Clinical Case Study: The Effects of Real-time iEMG Biofeedback on Facial Muscle Activation Patterns in a Child with Congenital Facial Palsy
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In: Public Access Theses, Dissertations, and Student Research from the College of Education and Human Sciences (2021)
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| 7 |
Validation of a Brazilian Portuguese Measure of Family Resources in a Sample of Parents to Children with Congenital Zika Virus Syndrome
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In: Public Access Theses, Dissertations, and Student Research from the College of Education and Human Sciences (2021)
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| 8 |
Development of infants presented with congenital syphilis in their first months of life
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In: Revista CEFAC, Vol 23, Iss 6 (2021) (2021)
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| 9 |
Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations
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In: ISSN: 0002-9297 ; EISSN: 1537-6605 ; American Journal of Human Genetics ; https://www.hal.inserm.fr/inserm-02964365 ; American Journal of Human Genetics, Elsevier (Cell Press), 2020, 107 (4), pp.727-742. ⟨10.1016/j.ajhg.2020.08.013⟩ (2020)
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| 10 |
Listening in Noise Remains a Significant Challenge for Cochlear Implant Users: Evidence from Early Deafened and Those with Progressive Hearing Loss Compared to Peers with Normal Hearing
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In: Journal of Clinical Medicine ; Volume 9 ; Issue 5 (2020)
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| 11 |
Comorbidity and cognitive overlap between developmental dyslexia and congenital amusia
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In: ISSN: 0264-3294 ; EISSN: 1464-0627 ; Cognitive Neuropsychology ; https://hal.archives-ouvertes.fr/hal-02158506 ; Cognitive Neuropsychology, Taylor & Francis (Routledge), 2019, 36 (1-2), pp.1-17. ⟨10.1080/02643294.2019.1578205⟩ (2019)
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| 12 |
Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.
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In: Genetics in medicine : official journal of the American College of Medical Genetics, vol 21, iss 8 (2019)
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| 13 |
Non-Syndromic Cleft Lip with or without Cleft Palate: Genome-Wide Association Study in Europeans Identifies a Suggestive Risk Locus at 16p12.1 and Supports SH3PXD2A as a Clefting Susceptibility Gene
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In: Genes ; Volume 10 ; Issue 12 (2019)
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| 14 |
Preditores clínicos do risco de broncoaspiração em crianças com cardiopatias congênitas ; Clinical predictors of the risk of bronchoaspiration in children with congenital heart disease
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Fernandes, Heloisa Regina. - : Biblioteca Digital de Teses e Dissertações da USP, 2019. : Universidade de São Paulo, 2019. : Faculdade de Medicina, 2019
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| 15 |
The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management
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In: ISSN: 0340-6717 ; EISSN: 1432-1203 ; Human Genetics ; https://hal.archives-ouvertes.fr/hal-02349575 ; Human Genetics, Springer Verlag, 2018, 137 (2), pp.111--127. ⟨10.1007/s00439-017-1862-z⟩ (2018)
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| 16 |
Lesion characteristics driving right-hemispheric language reorganization in congenital left-hemispheric brain damage
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| 17 |
Латинські епонімічні терміни на позначення вроджених вад розвитку та спадкових синдромів
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| 18 |
A human neurodevelopmental model for Williams syndrome.
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In: Nature, vol 536, iss 7616 (2016)
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| 19 |
A human neurodevelopmental model for Williams syndrome.
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In: Nature, vol 536, iss 7616 (2016)
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| 20 |
Shared cognitive resources for music and language: evidence from congenital amusia
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Sun, Yanan. - : Sydney, Australia : Macquarie University, 2016
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