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American Journal of Medical Genetics. Part A
|
September 18, 2009
Case report supporting that the Barber-Say and ablepharon macrostomia syndromes could represent one disorder
Jennifer Haensel, Nicolai Kohlschmidt, Susanne Pitz, et al.
The Journal of Clinical Endocrinology and Metabolism
|
May 11, 2006
Goitrous congenital hypothyroidism and hearing impairment associated with mutations in the TPO and SLC26A4/PDS genes
Nicole Pfarr, Guntram Borck, Andrew Turk, et al.
Audiology & Neuro-Otology
|
March 18, 2010
GJB2 mutations and genotype-phenotype correlation in 335 patients from germany with nonsyndromic sensorineural hearing loss: evidence for additional recessive mutations not detected by current methods
O Bartsch, A Vatter, U Zechner, et al.
Laryngo- Rhino- Otologie
|
October 15, 2019
[Training Curriculum for the Certificate "Diagnostics and Therapy of Oropharyngeal Dysphagia, including FEES", of the German Society for Phoniatrics and Pedaudiology and the German Society for Otolaryngology, Head and Neck Surgery]
Simone Graf, Annerose Keilmann, Stefan Dazert, et al.
Ear and Hearing
|
February 6, 2016
Confirmation of PDZD7 as a Nonsyndromic Hearing Loss Gene
Barbara Vona, Stanislav Lechno, Michaela A H Hofrichter, et al.
Frontiers in Psychology
|
August 4, 2015
Mental health problems in adolescents with cochlear implants: peer problems persist after controlling for additional handicaps
Maria Huber, Thorsten Burger, Angelika Illg, et al.
Behavioral and Brain Functions : BBF
|
February 20, 2013
A boy with homozygous microdeletion of NEUROG1 presents with a congenital cranial dysinnervation disorder [Moebius syndrome variant]
Julia C Schröder, Anne K Läßig, Danuta Galetzka, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 31, 2014
Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutations
Barbara Vona, Tobias Müller, Indrajit Nanda, et al.
Human Molecular Genetics
|
November 26, 2008
Homozygous disruption of PDZD7 by reciprocal translocation in a consanguineous family: a new member of the Usher syndrome protein interactome causing congenital hearing impairment
Eberhard Schneider, Tina Märker, Angelika Daser, et al.
International Journal of Pediatric Otorhinolaryngology
|
August 7, 2010
Evaluation of auditory development in infants and toddlers who received cochlear implants under the age of 24 months with the LittlEARS) Auditory Questionnaire
Birgit May-Mederake, Heike Kuehn, Arno Vogel, et al.
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Search research articles
Search
Showing results (31-40 of 41) with videos related to
Sort By:
Page
of 5
American Journal of Medical Genetics. Part A
|
September 18, 2009
Case report supporting that the Barber-Say and ablepharon macrostomia syndromes could represent one disorder
Jennifer Haensel, Nicolai Kohlschmidt, Susanne Pitz, et al.
The Journal of Clinical Endocrinology and Metabolism
|
May 11, 2006
Goitrous congenital hypothyroidism and hearing impairment associated with mutations in the TPO and SLC26A4/PDS genes
Nicole Pfarr, Guntram Borck, Andrew Turk, et al.
Audiology & Neuro-Otology
|
March 18, 2010
GJB2 mutations and genotype-phenotype correlation in 335 patients from germany with nonsyndromic sensorineural hearing loss: evidence for additional recessive mutations not detected by current methods
O Bartsch, A Vatter, U Zechner, et al.
Laryngo- Rhino- Otologie
|
October 15, 2019
[Training Curriculum for the Certificate "Diagnostics and Therapy of Oropharyngeal Dysphagia, including FEES", of the German Society for Phoniatrics and Pedaudiology and the German Society for Otolaryngology, Head and Neck Surgery]
Simone Graf, Annerose Keilmann, Stefan Dazert, et al.
Ear and Hearing
|
February 6, 2016
Confirmation of PDZD7 as a Nonsyndromic Hearing Loss Gene
Barbara Vona, Stanislav Lechno, Michaela A H Hofrichter, et al.
Frontiers in Psychology
|
August 4, 2015
Mental health problems in adolescents with cochlear implants: peer problems persist after controlling for additional handicaps
Maria Huber, Thorsten Burger, Angelika Illg, et al.
Behavioral and Brain Functions : BBF
|
February 20, 2013
A boy with homozygous microdeletion of NEUROG1 presents with a congenital cranial dysinnervation disorder [Moebius syndrome variant]
Julia C Schröder, Anne K Läßig, Danuta Galetzka, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 31, 2014
Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutations
Barbara Vona, Tobias Müller, Indrajit Nanda, et al.
Human Molecular Genetics
|
November 26, 2008
Homozygous disruption of PDZD7 by reciprocal translocation in a consanguineous family: a new member of the Usher syndrome protein interactome causing congenital hearing impairment
Eberhard Schneider, Tina Märker, Angelika Daser, et al.
International Journal of Pediatric Otorhinolaryngology
|
August 7, 2010
Evaluation of auditory development in infants and toddlers who received cochlear implants under the age of 24 months with the LittlEARS) Auditory Questionnaire
Birgit May-Mederake, Heike Kuehn, Arno Vogel, et al.
Page
of 5