Results 201 to 210 of about 3,786,126 (364)

The Chromosome Disorders

, 1970
S. Walters, N. Gregersen
semanticscholar   +1 more source

Chromosome conformation elucidates regulatory relationships in developing human brain

Nature, 2016
H. Won, L. Torre-Ubieta, J. Stein, N. Parikshak, Jerry Huang, Carli K. Opland, M. Gandal, G. J. Sutton, F. Hormozdiari, D. Lu, Changhoon Lee, E. Eskin, I. Voineagu, J. Ernst, D. Geschwind   +14 more
semanticscholar   +1 more source

Chromosome 3q22.2‐q26.2 Interstitial Deletion in a Patient With Wisconsin Syndrome, Blepharophimosis‐Ptosis‐Epicanthus Inversus Syndrome, Dandy‐Walker Malformation, Pierre Robin Sequence, and Recurrent Infections

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Wisconsin syndrome is a very rare genetic condition characterized by coarse facies, prominent nasal tip, bushy high arched/upsweeping eyebrows, and a full/everted lower lip. Deletion of chromosome 3q24q25 region is considered critical for its manifestation.
Pankaj Prasun, Sonja Henry, Vivek Balasubramaniam   +2 more
wiley   +1 more source

Prevalence of Differences of Sex Development Among Pediatric Endocrine Care Centers in Switzerland From 2000 to 2019. [PDF]

J Endocr Soc
Metzger S, Aebi-Ochsner C, Busiah K, Dirlewanger M, Gschwend S, Hess M, Kuhlmann B, l'Allemand D, Lang-Muritano M, Noordam K, Phan-Hug F, Probst U, Santi M, Schmid S, Schwitzgebel V, Steigert M, Szinnai G, Theintz G, Sommer G, Flück CE.   +19 more
europepmc   +1 more source

Human homolog of the mouse imprinted gene Impact resides at the pericentric region of chromosome 18 within the critical region for bipolar affective disorder

, 2000
Kenjiro Kosaki, Taichi A. Suzuki, Rika Kosaki, Hiroshi Yoshihashi, Masayuki Itoh, Yu-ichi Goto, Naoki Matsuo   +6 more
openalex   +1 more source

Familial vestibulocerebellar disorder maps to chromosome 13q31-q33: a new nystagmus locus [PDF]

, 2003
Nicola Ragge, Claire Hartley, AM Dearlove, Jerilyn A. Walker, I Russell‐Eggitt, Christopher M. Harris   +5 more
openalex   +1 more source

A Population‐Based Study of Limb Body Wall Complex With Proposed Features for Prenatal Diagnosis

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Limb body wall complex (LBWC) is a lethal condition comprising major congenital anomalies. Although currently diagnosed in the early prenatal period, historical diagnostic criteria are based on detailed pathological assessments. Prenatal and postnatal findings of LBWC and their phenotypic overlap with body stalk anomaly (BSA) and recurrent ...
Mary Ann Thomas, Susan Crawford, Tanya Bedard   +2 more
wiley   +1 more source

Clinical and genetic features of 6q deletion syndrome: A literature review and case report. [PDF]

Int J Surg Case Rep
Alomar M, Shaker K, Alomar K.
europepmc   +1 more source

Further genetic evidence for a panic disorder syndrome mapping to chromosome 13q [PDF]

, 2003
Steven P. Hamilton, Abby J. Fyer, Martina Durner, Gary A. Heiman, Ada Baisre, Susan E. Hodge, James A. Knowles, Myrna M. Weissman   +7 more
openalex   +1 more source

MCV/Q, Medical College of Virginia Quarterly, Vol. 13 No. 4 [PDF]

, 1977

core   +1 more source