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All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year Sort by creator [A → Z]' creator [Z → A]' publishing year ↑ (asc)' publishing year ↓ (desc)' title [A → Z]' title [Z → A]' Simple Search Page: 1 2 3 4 5 6 7 8 9...4.901 Hits 81 – 100 of 98.005 81 Evaluating International Diagnostic, Screening, and Monitoring Practices for Craniofacial Microsomia and Microtia: A Survey Study ... Ronde, Elsa M.; Nolte, Jitske W.; Kruisinga, Frea H.. - : SAGE Journals, 2022 BASE Show details 82 Longitudinal Effects on Adolescent Language (Harlaar et al., 2016) ... Harlaar, Nicole; DeThorne, Laura Segebart; Mahurin-Smith, Jamie. - : ASHA journals, 2022 BASE Show details 83 Longitudinal Effects on Adolescent Language (Harlaar et al., 2016) ... Harlaar, Nicole; DeThorne, Laura Segebart; Mahurin-Smith, Jamie. - : ASHA journals, 2022 BASE Show details 84 Language Skills of Youth Offenders (Lount et al., 2017) ... Lount, Sarah A.; Purdy, Suzanne C.; Hand, Linda. - : ASHA journals, 2022 BASE Show details 85 Language Skills of Youth Offenders (Lount et al., 2017) ... Lount, Sarah A.; Purdy, Suzanne C.; Hand, Linda. - : ASHA journals, 2022 BASE Show details 86 Supplementary Material for: Novel Cranial Imaging Findings and a Splice-Site Variant in a Patient with Tyrosinemia Type III, and a Summary of Published Cases ... A.B., Kahraman; H.T., Akar; N., GülerayLafcı; Y., Yıldız; A., Tokatlı. - : Karger Publishers, 2022 Abstract: Tyrosinemia type III is an extremely rare autosomal recessive disease, with only 19 patients yet reported. It is caused by a deficiency of the 4-hydroxyphenylpyruvate dioxygenase enzyme, resulting from biallelic mutations in the HPD gene. Although the clinical spectrum of the disease is not fully known, most patients present with neurodevelopmental symptoms. We report on a 20-month-old patient who was investigated due to developmental delay and dysmorphic features. The girl had a novel splice-site mutation in the HPD gene and ventriculomegaly in cranial imaging, which was not previously associated with tyrosinemia type III. Our patient had mild subjective improvement in social skills and language development after dietary therapy was started and her tyrosine levels decreased. We also summarize clinical, biochemical, and genetic findings of previously published patients with biallelic HPD mutations. ... Keyword: Medicine URL: https://dx.doi.org/10.6084/m9.figshare.17816324 https://karger.figshare.com/articles/dataset/Supplementary_Material_for_Novel_Cranial_Imaging_Findings_and_a_Splice-Site_Variant_in_a_Patient_with_Tyrosinemia_Type_III_and_a_Summary_of_Published_Cases/17816324 BASE Hide details 87 Supplementary Material for: Novel Cranial Imaging Findings and a Splice-Site Variant in a Patient with Tyrosinemia Type III, and a Summary of Published Cases ... A.B., Kahraman; H.T., Akar; N., GülerayLafcı. - : Karger Publishers, 2022 BASE Show details 88 Metathesis as a Bootstrapping Strategy among Children in the Philippines: A Qualitative Investigation on Language Development ... Lamanilao, Randy; Lagrimas, James Rolly M.; Paderog, Jane C.. - : Unpublished, 2022 BASE Show details 89 Activity Structure in Preschool Classrooms and Children’s Language Change ... A. Busra Ceviren. - : Open Science Framework, 2022 BASE Show details 90 The Interface between Linguistic Units and Socio-cultural Frames in Egyptian Arabic: A Cognitive Diglossic Perspective ... Alssiefy, Zakaria K A. - : Unpublished, 2022 BASE Show details 91 Pirá: A Bilingual Portuguese-English Dataset for Question-Answering about the Ocean ... Paschoal, André F. A.; Pirozelli, Paulo; Freire, Valdinei. - : arXiv, 2022 BASE Show details 92 THE BEL CANTO REVIVAL IN PEDAGOGY AND PERFORMANCE: PRESENTING MADNESS AND THE GREAT LUCIAS Jordan, Julia. - 2022 BASE Show details 93 Seeing our language: The effects of media representation on Scottish Gaelic learners Fitzgerald, Kendell. - 2022 BASE Show details 94 Machine-readable Finnish-Livvi bilingual translation dictionary ... Rantakaulio, Timo; Rueter, Jack; Pirinen, Flammie A.. - : Zenodo, 2022 BASE Show details 95 Machine-readable Northern Karelian Proper-Livvi bilingual translation dictionary ... Rantakaulio, Timo; Rueter, Jack; Pirinen, Flammie A.. - : Zenodo, 2022 BASE Show details 96 Machine-readable Finnish-Livvi bilingual translation dictionary ... Rantakaulio, Timo; Rueter, Jack; Pirinen, Flammie A.. - : Zenodo, 2022 BASE Show details 97 Machine-readable Northern Karelian Proper-Livvi bilingual translation dictionary ... Rantakaulio, Timo; Rueter, Jack; Pirinen, Flammie A.. - : Zenodo, 2022 BASE Show details 98 A New Amharic Speech Emotion Dataset and Classification Benchmark ... Retta, Ephrem A.; Almekhlafi, Eiad; Sutcliffe, Richard. - : arXiv, 2022 BASE Show details 99 A Deep CNN Architecture with Novel Pooling Layer Applied to Two Sudanese Arabic Sentiment Datasets ... Mhamed, Mustafa; Sutcliffe, Richard; Sun, Xia. - : arXiv, 2022 BASE Show details 100 Machine learning reveals cryptic dialects that explain mate choice in a songbird ... Wang, Daiping; Forstmeier, Wolfgang; Farine, Damien R. - : Nature Publishing Group, 2022 BASE Show details Page: 1 2 3 4 5 6 7 8 9...4.901

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