Characteristics of the 49 study subjects are shown, including gestational age (A), birth weight SDS (B), and disease severity (C).</p
Non-syndromic 46,XY DSD (disorders of sex development) represent a phenotypically diversiform group ...
most frequent chromosomal aberration associated with mild to moderate mental disability, a character...
Disorders of sex development (DSD) are a diverse group of conditions in which there is variation fro...
BACKGROUND:MIRAGE syndrome, a congenital multisystem disorder due to pathogenic SAMD9 variants, desc...
SGA and DSD can be resulted from placental insufficiency (Left panel). In MIRAGE syndrome, cell-leve...
Abstract We describe a case of posthumously diagnosed MIRAGE syndrome (Myelodysplasia, Infection, Re...
IntroductionPrimary adrenal insufficiency (PAI) presenting in the neonatal period can be life threat...
Background: Heterozygous de novo variants in SAMD9 cause MIRAGE syndrome, a complex multisystem diso...
Background Adrenal hypoplasia is a rare congenital disorder, which can be classifie...
We report a case of 34 year old woman how has been hospitalized at the age of 6 month with persisten...
AIMS/HYPOTHESIS: 6q24 transient neonatal diabetes mellitus (TNDM) is a rare form of diabetes present...
It is universally recognized that autoimmune type 1 diabetes mellitus (DM) is not the only form of t...
Background: Data on psychiatric disorders in survivors born very preterm (VP; 2499 g and/or gestatio...
Shwachman-Diamond syndrome (SDS) is an autosomal recessive disorder characterised by skeletal dyspla...
Shwachman-Diamond syndrome (SIDS) is an autosomal-recessive disorder characterized by short stature,...
Non-syndromic 46,XY DSD (disorders of sex development) represent a phenotypically diversiform group ...
most frequent chromosomal aberration associated with mild to moderate mental disability, a character...
Disorders of sex development (DSD) are a diverse group of conditions in which there is variation fro...
BACKGROUND:MIRAGE syndrome, a congenital multisystem disorder due to pathogenic SAMD9 variants, desc...
SGA and DSD can be resulted from placental insufficiency (Left panel). In MIRAGE syndrome, cell-leve...
Abstract We describe a case of posthumously diagnosed MIRAGE syndrome (Myelodysplasia, Infection, Re...
IntroductionPrimary adrenal insufficiency (PAI) presenting in the neonatal period can be life threat...
Background: Heterozygous de novo variants in SAMD9 cause MIRAGE syndrome, a complex multisystem diso...
Background Adrenal hypoplasia is a rare congenital disorder, which can be classifie...
We report a case of 34 year old woman how has been hospitalized at the age of 6 month with persisten...
AIMS/HYPOTHESIS: 6q24 transient neonatal diabetes mellitus (TNDM) is a rare form of diabetes present...
It is universally recognized that autoimmune type 1 diabetes mellitus (DM) is not the only form of t...
Background: Data on psychiatric disorders in survivors born very preterm (VP; 2499 g and/or gestatio...
Shwachman-Diamond syndrome (SDS) is an autosomal recessive disorder characterised by skeletal dyspla...
Shwachman-Diamond syndrome (SIDS) is an autosomal-recessive disorder characterized by short stature,...
Non-syndromic 46,XY DSD (disorders of sex development) represent a phenotypically diversiform group ...
most frequent chromosomal aberration associated with mild to moderate mental disability, a character...
Disorders of sex development (DSD) are a diverse group of conditions in which there is variation fro...