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The Journal of Pediatrics
|
March 27, 2007
Hearing loss in biotinidase deficiency: genotype-phenotype correlation
Hatice Serap Kalkanoğlu Sivri, Gülsüm Aydan Genç, Ayşegül Tokatli, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
February 15, 2025
Clinical and laboratory characteristics of propionic acidemia in a Turkish cohort
Halil Tuna Akar, Ayça Burcu Kahraman, Yılmaz Yıldız, et al.
European Journal of Medical Genetics
|
September 12, 2021
Biallelic mutations in ELFN1 gene associated with developmental and epileptic encephalopathy and joint laxity
Ali Dursun, Dilek Yalnizoglu, Didem Yucel Yilmaz, et al.
Cold Spring Harbor Molecular Case Studies
|
May 6, 2016
A t(5;16) translocation is the likely driver of a syndrome with ambiguous genitalia, facial dysmorphism, intellectual disability, and speech delay
Ayşegül Ozantürk, Erica E Davis, Aniko Sabo, et al.
Brain & Development
|
March 17, 2018
Clinical phenotype of hereditary spastic paraplegia due to KIF1C gene mutations across life span
Didem Yücel-Yılmaz, Emrah Yücesan, Dilek Yalnızoğlu, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
|
February 12, 2025
Phenotypic diversity in NAXE mutations
Ismail Solmaz, Dilek Yalnızoğlu, Ali Dursun, et al.
American Journal of Medical Genetics. Part A
|
September 9, 2017
Genotypic-phenotypic features and enzyme replacement therapy outcome in patients with mucopolysaccharidosis VI from Turkey
Mustafa Kılıç, Ali Dursun, Turgay Coşkun, et al.
Molecular Genetics and Metabolism
|
June 26, 2026
Expanding the clinical and molecular spectrum of NGLY1 deficiency: A multicenter cohort
Emel Yılmaz-Gümüş, Sebile Kılavuz, Şenol Demir, et al.
Nutrients
|
September 14, 2024
Longitudinal Dietary Intake Data in Patients with Phenylketonuria from Europe: The Impact of Age and Phenylketonuria Severity
Alex Pinto, Kirsten Ahring, Manuela Ferreira Almeida, et al.
Nutrients
|
July 13, 2024
Blood Phenylalanine Levels in Patients with Phenylketonuria from Europe between 2012 and 2018: Is It a Changing Landscape?
Alex Pinto, Kirsten Ahring, Manuela Ferreira Almeida, et al.
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Search research articles
Search
Showing results (71-80 of 88) with videos related to
Sort By:
Page
of 9
The Journal of Pediatrics
|
March 27, 2007
Hearing loss in biotinidase deficiency: genotype-phenotype correlation
Hatice Serap Kalkanoğlu Sivri, Gülsüm Aydan Genç, Ayşegül Tokatli, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|
February 15, 2025
Clinical and laboratory characteristics of propionic acidemia in a Turkish cohort
Halil Tuna Akar, Ayça Burcu Kahraman, Yılmaz Yıldız, et al.
European Journal of Medical Genetics
|
September 12, 2021
Biallelic mutations in ELFN1 gene associated with developmental and epileptic encephalopathy and joint laxity
Ali Dursun, Dilek Yalnizoglu, Didem Yucel Yilmaz, et al.
Cold Spring Harbor Molecular Case Studies
|
May 6, 2016
A t(5;16) translocation is the likely driver of a syndrome with ambiguous genitalia, facial dysmorphism, intellectual disability, and speech delay
Ayşegül Ozantürk, Erica E Davis, Aniko Sabo, et al.
Brain & Development
|
March 17, 2018
Clinical phenotype of hereditary spastic paraplegia due to KIF1C gene mutations across life span
Didem Yücel-Yılmaz, Emrah Yücesan, Dilek Yalnızoğlu, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
|
February 12, 2025
Phenotypic diversity in NAXE mutations
Ismail Solmaz, Dilek Yalnızoğlu, Ali Dursun, et al.
American Journal of Medical Genetics. Part A
|
September 9, 2017
Genotypic-phenotypic features and enzyme replacement therapy outcome in patients with mucopolysaccharidosis VI from Turkey
Mustafa Kılıç, Ali Dursun, Turgay Coşkun, et al.
Molecular Genetics and Metabolism
|
June 26, 2026
Expanding the clinical and molecular spectrum of NGLY1 deficiency: A multicenter cohort
Emel Yılmaz-Gümüş, Sebile Kılavuz, Şenol Demir, et al.
Nutrients
|
September 14, 2024
Longitudinal Dietary Intake Data in Patients with Phenylketonuria from Europe: The Impact of Age and Phenylketonuria Severity
Alex Pinto, Kirsten Ahring, Manuela Ferreira Almeida, et al.
Nutrients
|
July 13, 2024
Blood Phenylalanine Levels in Patients with Phenylketonuria from Europe between 2012 and 2018: Is It a Changing Landscape?
Alex Pinto, Kirsten Ahring, Manuela Ferreira Almeida, et al.
Page
of 9