Dysmorphology in the next millennium: history of medical genetics

Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro.

Human mutation·2015

Sonographic 'molar tooth' sign in the diagnosis of Joubert syndrome.

Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology·2011

The utility of quantitative methylation assays at imprinted genes for the diagnosis of fetal and placental disorders.

Clinical genetics·2010

Renal-coloboma syndrome: prenatal detection and clinical spectrum in a large family.

American journal of medical genetics·2001

Clinical and molecular findings in two patients with russell-silver syndrome and UPD7: comparison with non-UPD7 cases.

American journal of medical genetics·1999

Health care concerns and guidelines for adults with Down syndrome.

American journal of medical genetics·1999

Inborn Errors of Immunity and Hematopoietic Cell Transplantation: Recognition and Pretransplant Management.

Pediatric annals·2026

Pediatric Nonmalignant Hematopoietic Cell Transplantation in the Era of Precision Conditioning and Gene Therapy.

Pediatric annals·2026

Recognition and Management of Ulcerative Infantile Hemangioma: Risk Factors, Diagnosis, and Prognosis.

Pediatric annals·2026

Shared Care After Pediatric Nonmalignant Hematopoietic Cell Transplantation.

Pediatric annals·2026

Hemoglobinopathies and Cellular Therapy: What Pediatricians Need to Know About Indications and Counseling.

Pediatric annals·2026

Structured Approach to Pediatric Acute Gastroenteritis: Discussion of Diagnostics and Treatment of Acute Gastroenteritis in Children.

Pediatric annals·2026

Genotype-phenotypic correlation in a Chinese patient with isolated lissencephaly sequence caused by 17p13.3p13.2 chromosomal microdeletion: a 6-year follow-up study.

Frontiers in genetics·2026

GRIA3 Duplication at Xq25 in a Young Adult Male With Profound Intellectual Disability and Morbid Obesity: A Case Report.

Case reports in genetics·2026

Leveraging Long-Read Sequencing to Bridge the Diagnostic and Equity Gaps in Differences of Sex Development (DSD).

The Journal of clinical endocrinology and metabolism·2026

Progenitor Timing Shapes NG2-Glia Fate and Oligodendrocyte Differentiation.

Glia·2026

Fraternal Birth Order Effect and Other Sibship Effects in Bisexual and Asexual Men and Women.

Archives of sexual behavior·2026

Correlation analysis of cognitive dysfunction and fluctuations in serum fibroblast growth factor 21 (FGF21) levels in the overweight group.

Journal of medical biochemistry·2026

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Dysmorphology in the next millennium: history of medical genetics

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Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro.

Sonographic 'molar tooth' sign in the diagnosis of Joubert syndrome.

The utility of quantitative methylation assays at imprinted genes for the diagnosis of fetal and placental disorders.

Renal-coloboma syndrome: prenatal detection and clinical spectrum in a large family.

Clinical and molecular findings in two patients with russell-silver syndrome and UPD7: comparison with non-UPD7 cases.

Health care concerns and guidelines for adults with Down syndrome.

Inborn Errors of Immunity and Hematopoietic Cell Transplantation: Recognition and Pretransplant Management.

Pediatric Nonmalignant Hematopoietic Cell Transplantation in the Era of Precision Conditioning and Gene Therapy.

Recognition and Management of Ulcerative Infantile Hemangioma: Risk Factors, Diagnosis, and Prognosis.

Shared Care After Pediatric Nonmalignant Hematopoietic Cell Transplantation.

Hemoglobinopathies and Cellular Therapy: What Pediatricians Need to Know About Indications and Counseling.

Structured Approach to Pediatric Acute Gastroenteritis: Discussion of Diagnostics and Treatment of Acute Gastroenteritis in Children.

Genotype-phenotypic correlation in a Chinese patient with isolated lissencephaly sequence caused by 17p13.3p13.2 chromosomal microdeletion: a 6-year follow-up study.

GRIA3 Duplication at Xq25 in a Young Adult Male With Profound Intellectual Disability and Morbid Obesity: A Case Report.

Leveraging Long-Read Sequencing to Bridge the Diagnostic and Equity Gaps in Differences of Sex Development (DSD).

Progenitor Timing Shapes NG2-Glia Fate and Oligodendrocyte Differentiation.

Fraternal Birth Order Effect and Other Sibship Effects in Bisexual and Asexual Men and Women.

Correlation analysis of cognitive dysfunction and fluctuations in serum fibroblast growth factor 21 (FGF21) levels in the overweight group.

Related Experiment Videos

Dysmorphology in the next millennium: history of medical genetics

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