Results 91 to 100 of about 9,359 (213)
Congenital imprinting disorders: EUCID.net - a network to decipher their aetiology and to improve the diagnostic and clinical care. [PDF]
, 2015 Imprinting disorders (IDs) are a group of eight rare but probably underdiagnosed congenital diseases affecting growth, development and metabolism. They are caused by similar molecular changes affecting regulation, dosage or the genomic sequence of ...
Eggermann, Thomas +9 more
core +5 more sources
Successful use of long acting octreotide in two cases with Beckwith-Wiedemann syndrome and severe hypoglycemia [PDF]
, 2014 INTRODUCTION: Hyperinsulinism associated with Beckwith-Wiedemann syndrome (BWS) can occur in about 50% of cases, causing hypoglycemia of variable severity. Parenteral use of octreotide may be indicated if unresponsive to diazoxide.
Hiba Al-Zubeidi +2 more
core +1 more source
Macroglossia associated with 271 bp deletion in exon 50 of dystrophin gene
Annals of Indian Academy of Neurology, 2011 Macroglossia is rare in patients of Duchenne muscular dystrophy (DMD), and its occurrence without any endocrinologic abnormality, seizures or an abnormal karyotype is even rarer.
Malhotra Hardeep +3 more
doaj
Obstructive Sleep Apnea Syndrome (OSAS). Review of the literature [PDF]
, 2012 Obstructive sleep apnea and hypopnea syndrome is characterized by repeated airway collapse during sleep. The literature describes multiple causes of the disease.
Azagra Calero, Eva +4 more
core +1 more source
Rwanda Medical Journal, 2023 INTRODUCTION: While Beckwith-Wiedemann syndrome is among rare genomic imprinting disorders, its diagnosis still presents challenges in clinical settings.
B. Tuyishimire +8 more
doaj +1 more source
Use of a biomechanical tongue model to predict the impact of tongue surgery on speech production
, 2007 This paper presents predictions of the consequences of tongue surgery on speech production. For this purpose, a 3D finite element model of the tongue is used that represents this articulator as a deformable structure in which tongue muscles anatomy is ...
Brix, Muriel +3 more
core +1 more source
Síndrome de Down e Fissuras Lábio-palatinas [PDF]
, 2012 TCC (graduação) - Universidade Federal de Santa Catarina. Centro de Ciências da Saúde. Odontologia.Relacionar Síndrome de Down e fissuras lábio-palatinas é de grande valia visto que a primeira atualmente é considerada a anomalia cromossômica mais comum ...
Valle, Fernanda Rafaela
core
Dental management of patients with endocrine disorders [PDF]
, 2010 Introduction: The endocrine system is responsible for hormonal secretion and is closely related to the central nervous system, as it diversifies its functions through the hypothalamus and pituitary glands.
Carlos Fabuel, Laura +2 more
core +1 more source