Results 201 to 210 of about 148,895 (244)

The Natural Course of Bosch‐Boonstra‐Schaaf Optic Atrophy Syndrome

Clinical Genetics, EarlyView.
Here, we present data on genetic variants and phenotype development of 47 individuals with Bosch‐Boonstra‐Schaaf optic atrophy syndrome, a rare neurodevelopmental disorder, highlighting the fact that the disease does not appear to be fundamentally progressive.
Ilia Valentin, Pilar Caro, Christine Fischer, Heiko Brennenstuhl, Christian P. Schaaf   +4 more
wiley   +1 more source

Multi-Organ Transplantation in Adult Congenital Heart Disease: Navigating the Unique Challenges of a Distinct Patient Population. [PDF]

Methodist Debakey Cardiovasc J
Duarte VE, Urey MA, Adler ED, Merkelz B, Hobeika MJ, Suarez EE, Quarti AG, Yousefzai R.   +7 more
europepmc   +1 more source

Aarskog Syndrome: Deep Phenotyping and Genomic Landscape of a New Cohort Including Adult Patients

Clinical Genetics, EarlyView.
This study presents the deep phenotyping data of 14 new Aarskog‐Scott syndrome patients with molecular confirmation. ABSTRACT Aarskog‐Scott syndrome (AAS, MIM#305400) is an X‐linked disorder characterized by recognizable facial features, short stature, and genitourinary and skeletal malformations.
Gozde Tutku Turgut, Umut Altunoglu, Şahin Avcı, Tuğba Kalaycı, Ayça Dilruba Aslanger, Volkan Karaman, Zehra Oya Uyguner, Hülya Kayserili   +7 more
wiley   +1 more source

Emerging trends and cross-country health inequalities in congenital birth defects: insights from the GBD 2021 study. [PDF]

Int J Equity Health
Liu H, Chen K, Wang T, Ruan X, Wei J, Tang J, Li L, Qin J.   +7 more
europepmc   +1 more source

Corrigendum: Pregnancy outcomes of 4,200 fetuses with increased nuchal translucency in Henan, China. [PDF]

Front Med (Lausanne)
Guo Z, Yang W, Zhao Q, Zhang Y, Wang X, Wang J, Wang R, Hao B, Liao S.   +8 more
europepmc   +1 more source

De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders [PDF]

, 2018
et al.,, Warner, Brad W
core   +1 more source

Impact of the Pre-Operative Standardized Nutritional Protocol in Infants with Congenital Heart Disease (CHD). [PDF]

J Cardiovasc Dev Dis
Zacharias P, Blinci J, Shenoy R, Lee J, Singh Y.   +4 more
europepmc   +1 more source

Can we know more about atherosclerosis in cyanotic patients with congenital heart disease-the potential role of sphingosine-1-phosphate? [PDF]

Front Cardiovasc Med
Nartowicz SA, Gabriel M, Janus M, Cieślewicz A, Malesza K, Bartczak-Rutkowska A, Lesiak M, Trojnarska O.   +7 more
europepmc   +1 more source

Pentalogy of Fallot: A case report. [PDF]

J Int Med Res
Zhong Z, Wen T.
europepmc   +1 more source

Anomalous right coronary artery from the pulmonary artery with patent ductus arteriosus in a 5-month-old infant: a rare case report. [PDF]

Kardiochir Torakochirurgia Pol
Sabateen F, Soják V, Tittel P, Bobík L, Nosál M.   +4 more
europepmc   +1 more source