Results 211 to 220 of about 354,249 (306)

Burden of birth defects in a war and siege-affected region: a retrospective hospital-based cross-sectional study from Tigray region, Northern Ethiopia. [PDF]

BMJ Open
Berihu BA, Mekonen HK, Magana T, Belay TG, Zelelew YB, Debeb YG, Yang P, Berhe H, Mulugeta A, Mulugeta A.   +9 more
europepmc   +1 more source

DEFECTIVE DEVELOPMENT OF THE CENTRAL NERVOUS SYSTEM IN A CAT [PDF]

Brain, 1895
openaire   +1 more source

Laminin 211 inhibits protein kinase A in Schwann cells to modulate neuregulin 1 type III-driven myelination [PDF]

, 2017
et al.,, Mogha, Amit, Monk, Kelly
core   +1 more source

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
wiley   +1 more source

Clinical outcomes in neonates with congenital heart disease with concurrent congenital neurological anomalies. [PDF]

BMC Pediatr
Torabyan Z, El-Rahi H, Cong CY, Coll AC, Ghimire LV.   +4 more
europepmc   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Mapping whole-organism genetic comorbidities across model Species using unified ontologies. [PDF]

Genetics
Peaslee C, Held M, Fadial E, Conrad DF.
europepmc   +1 more source

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li, Deziree L. Coleman, Kelsey Hogan, Danielle Luz, Lindsay Bhandari, Newell Belnap, Tiffany Busa, Charles Coutton, Klaus Dieterich, Svetlana Gorokhova, Clara Hildebrandt, Rachel Logan, Milena Mariani, Manuela Morleo, Vincenzo Nigro, John Pappas, Rachel Rabin, Kelly Schoch, Angelo Selicorni, Vandana Shashi, Rebecca Spillmann, Jennifer Sullivan, Charlotte Tardy, Samantha A. Schrier Vergano, Brock Grill, Kristin Baranano   +25 more
wiley   +1 more source

Discordance for Defects in Monochorionic Twins: Prevalence and Impact on Perinatal Outcomes. [PDF]

Diagnostics (Basel)
Litwinska E, Walasik I, Szpotanska-Sikorska M, Stanirowski P, Góra T, Szajner T, Janowicz-Grelewska A, Księżopolska A, Ludwin A, Litwinska M.   +9 more
europepmc   +1 more source

Some congenital defects of the nervous system.

South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde, 1967
openaire   +1 more source