Found: 20
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A Case of Galactosialidosis with Novel Mutations of the Protective Protein/Cathepsin A Gene: Diagnosis Prompted by Trophoblast Vacuolization on Placental Examination.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I: a retrospective case series analysis of nine sibships.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Clinical Genetic Testing in Autism Spectrum Disorder in a Large Community-Based Population Sample.
- Published in:
- 2020
- By:
- Publication type:
- journal article
A diagnosis of Birt–Hogg–Dubé syndrome in individuals with Smith–Magenis syndrome: Recommendation for cancer screening.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 2, p. 490, doi. 10.1002/ajmg.a.63049
- By:
- Publication type:
- Article
Longitudinal MRI findings in patient with SLC25A12 pathogenic variants inform disease progression and classification.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 11, p. 2284, doi. 10.1002/ajmg.a.61322
- By:
- Publication type:
- Article
Aromatase P450 Expression in a Feminizing Adrenal Adenoma Presenting as Isosexual Precocious Puberty.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2001, v. 86, n. 2, p. 649, doi. 10.1210/jcem.86.2.7201
- By:
- Publication type:
- Article
Response to Growth hormone deficiency in mitochondrial disorders.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2017, v. 30, n. 4, p. 483, doi. 10.1515/jpem-2017-0020
- By:
- Publication type:
- Article
Glycogen storage disease type IX and growth hormone deficiency presenting as severe ketotic hypoglycemia.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2017, v. 30, n. 2, p. 247, doi. 10.1515/jpem-2016-0342
- By:
- Publication type:
- Article
Efficacy of growth hormone therapy in Kearns-Sayre syndrome: the KIGS experience.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2016, v. 29, n. 11, p. 1319, doi. 10.1515/jpem-2016-0172
- By:
- Publication type:
- Article
Growth and Neurodevelopmental Outcomes of Early, High-Dose Parenteral Amino Acid Intake in Very Low Birth Weight Infants: A Randomized Controlled Trial.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Changes in mTOR/4‐EBP1 pathway induced by a novel mutation in PRKAG2 gene (864.7).
- Published in:
- FASEB Journal, 2014, v. 28, p. N.PAG, doi. 10.1096/fasebj.28.1_supplement.864.7
- By:
- Publication type:
- Article
PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations.
- Published in:
- Clinical Genetics, 2021, v. 99, n. 2, p. 313, doi. 10.1111/cge.13877
- By:
- Publication type:
- Article
PRKAG2 mutations presenting in infancy.
- Published in:
- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 6, p. 823, doi. 10.1007/s10545-017-0072-0
- By:
- Publication type:
- Article
mTOR signaling contributes to chondrocyte differentiation.
- Published in:
- Developmental Dynamics, 2008, v. 237, n. 3, p. 702, doi. 10.1002/dvdy.21464
- By:
- Publication type:
- Article
Osteoporosis, Fractures, and Blindness Due to a Missense Mutation in the LRP5 Receptor.
- Published in:
- Orthopedic Research & Reviews, 2023, v. 15, p. 39, doi. 10.2147/ORR.S400111
- By:
- Publication type:
- Article
Permanent Neonatal Diabetes due to Mutations in KCNJ11Encoding Kir6.2.
- Published in:
- Diabetes, 2004, v. 53, n. 10, p. 2713, doi. 10.2337/diabetes.53.10.2713
- By:
- Publication type:
- Article
Application of Whole Exome Sequencing in Congenital Secretory Diarrhea Diagnosis.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Ochronotic Chondropathy: A Case Report.
- Published in:
- Biomedicines, 2023, v. 11, n. 10, p. 2625, doi. 10.3390/biomedicines11102625
- By:
- Publication type:
- Article
LRP5, Bone Mass Polymorphisms and Skeletal Disorders.
- Published in:
- Genes, 2023, v. 14, n. 10, p. 1846, doi. 10.3390/genes14101846
- By:
- Publication type:
- Article
The effect of rapamycin on bone growth in rabbits.
- Published in:
- Journal of Orthopaedic Research, 2009, v. 27, n. 9, p. 1157, doi. 10.1002/jor.20894
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- Publication type:
- Article