Results 161 to 170 of about 423,269 (300)

Fetal pathology meets clinical genetics – on the value of a comprehensive postmortem examination. [PDF]

Med Genet
Fauth C, Sprung S, BSc MM, BSc RL, Mutz-Dehbalaie I, Döttelmayer P, Freund-Unsinn K.   +6 more
europepmc   +1 more source

Fetal Tissue Transplantation: An Ethical Analysis [PDF]

, 1991
Ressler, Mark A.
core   +2 more sources

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Placental transport dysfunction in omega-3 and omega-6 fatty acid in patients with gestational diabetes mellitus. [PDF]

Ann Med
Long W, Guo F, Yao J, Wei Q, Yin L, Xu J, Cao X.   +6 more
europepmc   +1 more source

Prenatal Diagnosis and Selective Abortion [PDF]

, 1973
Lebacqz, Karen A.
core   +1 more source

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

Early US Prenatal Diagnosis and Serial Imaging Confirmation of Hydrometrocolpos with Uterine Didelphys and Cloacal Malformation: A Rare Case of Combined Müllerian Duct and Anorectal Anomaly. [PDF]

Int Med Case Rep J
Soveyzi F, Aleebrahim-Dehkordi E, Jandaghi J, Soleimani H.   +3 more
europepmc   +1 more source

Abortion: Part VIII [PDF]

, 1967
Harrington, Paul V.
core   +6 more sources

Cardiovascular defects associated with abnormalities in midline development in the Loop-tail mouse mutant [PDF]

, 2001
Anderson, RH, Conway, SJ, Copp, AJ, Gerrelli, D, Greene, NDE, Henderson, DJ, Murdoch, JN   +6 more
core   +1 more source

ALDOA Promotes Glycolysis and NLRP3/GSDMD Pyroptosis to Accelerate ALS Progression

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is characterized by progressive motor neuron degeneration. Glycolytic dysregulation is implicated in disease progression, yet the underlying mechanisms remain unclear. This study investigates how Aldolase A (ALDOA) drives ALS progression through glycolysis‐mediated motor neuron pyroptosis.
Kaixin Yan, Yan Jiang, Yuxuan Yong, Tianshuo Zhang, Niannian Zhang, Qianqian Zeng, Xue Gong, Li Meng, Fangfang Bi, Yongmin Liu   +9 more
wiley   +1 more source