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Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals

• Authors : Fernando Santos-Simarro; Aude Annick Suter; Uwe Kornak ...

Subjects: Adult; bronchomalacia; 2716 Genetics (clinical)

• Source: American Journal of Medical Genetics Part ASuter, A A, Santos-Simarro, F, Toerring, P M, Abad Perez, A, Ramos-Mejia, R, Heath, K E, Huckstadt, V, Parrón-Pajares,

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Key patient-reported outcomes in children and adolescents with intoxication-type inborn errors of metabolism: an international Delphi-based consensus

• Authors : Bösch, Florin; Zeltner, Nina A; Baumgartner, Matthias R ...

Subjects: Parents; 2716 Genetics (clinical); Consensus

• Source: Orphanet Journal of Rare DiseasesOrphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-9 (2022)

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Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies

• Authors : Beat Steinmann; Gabor Matyas; Janine Meienberg ...

Subjects: Male; 0301 basic medicine; Fibrillin-2

• Source: Clinical Genetics

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Impact of interventional and non‐interventional variables on anthropometric long‐term development in glutaric aciduria type 1: A national prospective multi‐centre study

• Authors : Chris Mühlhausen; Katharina Mengler; Eva Thimm ...

Subjects: Male; Pediatrics; Glutaric aciduria type 1

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Whole Exome Sequencing in Coloboma/Microphthalmia: Identification of Novel and Recurrent Variants in Seven Genes

• Authors : Katharina Steindl; Christina Gerth-Kahlert; Silke Feil ...

Subjects: Male; 0301 basic medicine; 10039 Institute of Medical Genetics

• Source: Genes, Vol 12, Iss 65, p 65 (2021)Genes, 12 (1)GenesVolume 12Issue 1

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Rare heterozygous GDF6 variants in patients with renal anomalies

• Authors : Anne Christians; Soeren S. Lienkamp; Maike Getwan ...

Subjects: 0301 basic medicine; Adult; Male

• Source: European journal of human genetics : EJHGEnglandEuropean Journal of Human Genetics

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The involvement of the canonical Wnt‐signaling receptor LRP5 and LRP6 gene variants with ADHD and sexual dimorphism: Association study and meta‐analysis

• Authors : Marcel Romanos; Johannes Hebebrand; Anke Hinney ...

Subjects: 0301 basic medicine; Oncology; Male

• Source: American Journal of Medical GeneticsAmerican Journal of Medical Genetics Part B-Neuropsychiatric

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Fabry disease genotype, phenotype and migalastat amenability: insights from a national cohort

• Authors : Felix Beuschlein; Albina Nowak; Frédéric Barbey ...

Subjects: Adult; Male; medicine.medical_specialty

• Source: Nowak, Albina; Huynh-Do, Uyen; Krayenbuehl, Pierre-Alexandre; Beuschlein, Felix; Schiffmann, Raphael; Barbey, Frédéric (2019). Fabry disease genotype, phenotype, and migalastat amenability: Insights

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Atonal homolog 7 (ATOH7) loss-of-function mutations in predominant bilateral optic nerve hypoplasia

• Authors : Amit Tiwari; Wolfgang Berger; Christina Gerth-Kahlert ...

Subjects: Male; Retinal Ganglion Cells; 10018 Ophthalmology Clinic

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The Expression of Decidual Protein Induced by Progesterone (DEPP) Is Controlled by Three Distal Consensus Hypoxia Responsive Element (HRE) in Hypoxic Retinal Epithelial Cells

• Authors : Klee, Katrin; Storti, Federica; Maggi, Jordi ...

Subjects: 10018 Ophthalmology Clinic; Adult; Male

• Source: GenesGenes, Vol 11, Iss 1, p 111 (2020)

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