Results 211 to 220 of about 141,811 (315)

Functional Analyses of SATB2 Variants Reveal Pathogenicity Mechanisms Linked With SATB2‐Associated Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT SATB2‐associated syndrome (SAS) is characterized by intellectual disability, neurodevelopmental disorders, cleft palate, and dental abnormalities. SAS is caused by variants in the special AT‐rich sequence‐binding protein 2 (SATB2), which encodes a transcription factor containing two CUT domains and a homeobox (HOX) domain.
Nao Ukita, Takuya Ogawa, Mamiko Yamada, Chisen Takeuchi, Kenjiro Kosaki, Keiji Moriyama   +5 more
wiley   +1 more source

Frozen Cadaveric Rib Grafts in Primary or Revision Rhinoplasty: A Systematic Review and Meta-analysis. [PDF]

Plast Reconstr Surg Glob Open
Mrad MA, Al Qurashi AA, Shah Mardan QNM, Halawani IR, Al Jabr FA, Alnafisi FN, Alkhalifah KM, Bamakhrama B, AlBattal NZ.   +8 more
europepmc   +1 more source

Über die Resorption einiger Arzneistoffe von der entzündeten Darmschleimhaut aus

, 1929
Kazuo Masago
openalex   +2 more sources

Compound Heterozygous Variants in ZSWIM7 Gene Linked to Infertility and Its Role in Gonadal Development

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study aims to elucidate the role of the ZSWIM7 gene in the etiology of infertility, focusing on its potential association with premature ovarian insufficiency and azoospermia. We investigated an 18‐year‐old female patient who presented with primary amenorrhea, hypoplasia of the uterus and ovaries, Tanner stage II breast and pubic hair ...
Denise M. Christofolini, Guilherme Pinn, Thainá Vilella, Maria I. Melaragno, Mariana Moysés‐Oliveira, Luciano Pompei, Rare Genomes Project Consortium, Bianca Bianco, Caio P. Barbosa   +8 more
wiley   +1 more source

Horizontal impact of extensive incisor retraction on alveolar bone. [PDF]

BMC Oral Health
Lu W, Zhang Y, Xin T, Liu X, Zhang X, Chen S, Han B.   +6 more
europepmc   +1 more source

Histologische Untersuchungen über die Resorption aus der Trommelhöhle und den Einfluss derer Iontophorese bei Mittelohrentzundung

, 1928
Minami Saito, G. OKASAKI
openalex   +2 more sources

INVOLVEMENT OF MACROPHAGES IN COLLAGEN RESORPTION [PDF]

, 1969
Paul F. Parakkal
openalex   +1 more source

Tall Stature and Scoliosis Associated With a Novel Homozygous Loss‐of‐Function Missense Variant in NPR3

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT NPR3‐related tall stature is characterized by tall stature, elongated big toes, and additional epiphyses in hand and foot bones. The condition is caused by biallelic loss‐of‐function variants affecting natriuretic peptide receptor 3 (NPR3). Five individuals from four different families have been reported.
Pierre Moffatt, Chantal Janelle, Valancy Miranda, Ghalib Bardai, Frank Rauch   +4 more
wiley   +1 more source

Assessment of root resorption on lateral incisors after primary canine extraction treating mesioangular displaced permanent canines: a randomised controlled trial. [PDF]

Front Dent Med
Helal N, Naaman R, Alamoudi N, El-Housseiny A, Jadu F.   +4 more
europepmc   +1 more source

Experimentelle Untersuchungen über die Resorption der Arzneistoffe vom subkutanen Gewebe aus

, 1930
Kazuo Masago
openalex   +2 more sources