Rarechromo.org

Rarechromo.org has Server used 217.160.0.100 IP Address with Hostname in Germany. Below listing website ranking, Similar Webs, Backlinks. This domain was first 2000-09-27 (20 years, 267 days) and hosted in Germany, server ping response time 137 ms

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Found 49 Websites with content related to this domain, It is result after search with search engine

Unique Understanding Rare Chromosome And Gene Disorders

Rarechromo.org   DA: 14 PA: 14 MOZ Rank: 28

  • Awareness Day 2021 Thursday 24th June 2021 is Rare Chromosome Disorder Awareness Day
  • It's a day to celebrate, educate and raise awareness
  • There's loads of different ways you can get involved, click the button below and let's beat the isolation together!

Unique – Rare Chromosome Disorder Support Group Genetic

Rarediseases.info.nih.gov   DA: 25 PA: 18 MOZ Rank: 44

Synonyms: Chromosome 15q11.2 microdeletion, Chromosome 15q11.2 deletion, Del(15)(q11.2), 15q11.2 microdeletion syndrome, Monosomy 15q11.2, 15q11.2 BP1-BP2

UNIQUE (Rare Chromosome Disorder Support Group)

Justgiving.com   DA: 18 PA: 7 MOZ Rank: 27

  • Unique provides much needed help and information to those caring for a family member with a rare chromosome disorder
  • These lifelong disorders affect 1 in 200 live-born babies and those affected are often sick and severely disabled, unable to walk or talk
  • For more information see www.rarechromo.org

Unique Chromosome Disorder Guides Survey

Umcg.nl   DA: 11 PA: 50 MOZ Rank: 64

  • After analysis, we will share our findings with Unique and they will be published on Unique’s website (www.rarechromo.org)
  • You can only participate once in the survey
  • If you have already participated, or if you are not the parent of a child with a chromosome disorder, please go back to the Unique Chromosome Disorder Guides .

KAT6B-related Disorders

Kat6b.org   DA: 13 PA: 13 MOZ Rank: 30

  • This website provides links to further information on KAT6B for clinicians, scientists, and families
  • Both syndromes share global developmental delay or intellectual disability, hypotonia, cryptorchidism in males and small or absent patellae
  • Heart defects, abnormal teeth, deafness, and thyroid problems are common to both syndrome.

About DDX3X, The Mutation, The Effects, And How The DDX3X

Ddx3x.org   DA: 9 PA: 13 MOZ Rank: 27

DDX3X syndrome can be found using Whole Exome Sequencing (WES)—a test that sequences the protein-coding regions of the 20,000 genes in an individual, as well as more targeted panel analysis, such as the Congenital Hypotonia Xpanded Panel offered by Gene Dx, which targets the specific phenotype-driven gene list for hypotonia/low muscle tone.

Rarechromo.org – Milly's Story

Ourmillyalice.wordpress.com   DA: 27 PA: 20 MOZ Rank: 53

Posted on December 2, 2016 December 5, 2016 Tags 17pq21.31 deletion, 17q21.3 microdeletion, Dr Hugh Allen, KANSL gene, KDVS, Kool Kid, Koolen-De Vries Syndrome., Rarechromo.org 12 Comments on Appointments, appointments, appointments! The days after our KDVS diagnosis

1q43q44 — Lifewithhattie

Lifewithhattie.com   DA: 18 PA: 8 MOZ Rank: 33

  • Hattie Blake Heasley Hattie was born on May 24, 2017 with a rare chromosomal deletion called 1q43q44 Deletion Syndrome
  • We want to give a peek into Hattie's life so others can become more aware of these 1q4 Deletions and learn about these genetic disorders as we learn ourselves.

Chromosome 9p Duplication Genetic And Rare Diseases

Rarediseases.info.nih.gov   DA: 25 PA: 40 MOZ Rank: 73

  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition
  • NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them
  • Unique is a source of information and support for families and individuals affected by rare chromosome disorders.

Chromosome 3q13.31 Deletion Syndrome

Ncbi.nlm.nih.gov   DA: 20 PA: 25 MOZ Rank: 54

Summary 3q13 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 3.

Chromosome 19p Deletion Syndrome

Dovemed.com   DA: 15 PA: 50 MOZ Rank: 75

Chromosome 19p Deletion Syndrome is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the short arm (p) of chromosome 19.

Recurrent Deletions And Duplications Of Chromosome 2q11.2

Pubmed.ncbi.nlm.nih.gov   DA: 23 PA: 10 MOZ Rank: 44

  • Copy number variation (CNV) in the long arm of chromosome 2 has been implicated in developmental delay (DD), intellectual disability (ID), autism spectrum disorder (ASD), congenital anomalies, and psychiatric disorders
  • Here we describe 14 new subjects with recurrent deletions and duplications of chromosome 2q11.2, 2q13, and 2q11.2-2q13.

8p Inverted Duplication & Deletion – Rarechromo.org

Project8p.org   DA: 13 PA: 50 MOZ Rank: 75

  • 8p Inverted Duplication & Deletion – rarechromo.org
  • Inverted duplication and deletion of 8p, known as inv dup del 8p, is a rare genetic condition that is estimated to occur once in every 10,000-30,000 births
  • In people with inv dup del 8p, there is both an extra copy (duplication) of part of the genetic material that makes

Chromosome Disorder Outreach Inc Chromosome Disorder

Chromodisorder.org   DA: 18 PA: 18 MOZ Rank: 49

  • Chromosome Disorder Outreach, Inc is a non-profit organization
  • Founded, supported, and run by parents just like you, for over 29 years CDO has been supporting those born with rare chromosome and gene mutation disorders
  • Help us continue this vital work.

Unique Christmas Cards Etsy

Etsy.com   DA: 12 PA: 30 MOZ Rank: 56

    2q37 Deletion Syndrome

    Dovemed.com   DA: 15 PA: 44 MOZ Rank: 74

    • 2q37 Deletion Syndrome is a rare genetic disorder that can affect many body parts
    • The disorder is known to be caused by a deletion of genetic material - from a specific locus (37) of the long arm (q) of chromosome 2
    • The deletion may occur spontaneously, or can be due to genetic phenomena such as unbalanced translocation and chromosome ring

    Unique Christmas Cards Zazzle

    Zazzle.com   DA: 14 PA: 23 MOZ Rank: 53

    • Buffalo Plaid Red and Black Photo Merry Christmas Holiday Card
    • Ruff Year Funny Black Labrador Christmas Pandemic Holiday Card
    • Meowy Christmas Unique Cat Themed Funny 3 Photo Holiday Card.

    Prader-Willi Syndrome

    Ncbi.nlm.nih.gov   DA: 20 PA: 18 MOZ Rank: 55

    • GTR Test ID Help Each Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number
    • The format is GTR00000001.1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version.

    NIPT Predictive Value Calculator

    Perinatalquality.org   DA: 24 PA: 19 MOZ Rank: 61

    • The NIPT/cfDNA Performance Caclulator is a tool to quickly and easily understand the positive predictive value of a prenatal test given the condition, maternal age, specificity of the test, and sensitivity of the test
    • This web based PPV calculator was made by Sound Information Services LLC in a combined effort with the National Society of Genetic Counselors (NSGC) and the Perinatal Quality

    MED12 Gene: MedlinePlus Genetics

    Medlineplus.gov   DA: 15 PA: 21 MOZ Rank: 55

    • The MED12 gene provides instructions for making a protein called mediator complex subunit 12
    • As its name suggests, this protein forms one part (subunit) of the mediator complex, which is a group of about 25 proteins that work together to regulate gene activity

    LUSCAN-LUMISH SYNDROME; LLS MENDELIAN.CO

    Mendelian.co   DA: 16 PA: 36 MOZ Rank: 72

    • Luscan-Lumish syndrome is characterized by macrocephaly, intellectual disability, speech delay, low sociability, and behavioral problems
    • More variable features include postnatal overgrowth, obesity, advanced carpal ossification, developmental delay, and seizures ( …

    What Is Triple X Syndrome

    Everydayhealth.com   DA: 22 PA: 25 MOZ Rank: 68

    • Triple X syndrome — also called trisomy X or 47,XXX — is a genetic disorder in which a woman carries an extra X chromosome in each of her cells

    004B Rarechromo Briefing

    Barrycarpentereducation.files.wordpress.com   DA: 43 PA: 37 MOZ Rank: 28

    • Diagram of a chromosome Even when people are identified as having a similar condition, the way in which it affects each person may still vary a great deal.

    1p36 Deletion Syndrome Life Expectancy, Cause, Symptoms

    Medicinenet.com   DA: 19 PA: 35 MOZ Rank: 77

    Introduction to the 1p36 deletion syndrome – how individuals get chromosomes with missing DNA; 1p36 deletion syndrome stands for the following: 1 is the chromosome number that has deleted DNA, p is the short arm of the chromosome (shortest length of DNA above the centromere) that contains designated area 36 that is missing DNA

    Chromosome 9 P Minus Syndrome

    Clinicaltrials.gov   DA: 18 PA: 21 MOZ Rank: 63

    • Patients with deletion of chromosome 9 P are rare (~200 in the medical literature) and have a diverse set of phenotypic characteristics
    • We propose using state of the art genome sequencing methods to define the location and size of the deleted portion of chromosome 9 P as well as the genetic background in affected patients (whole genome sequencing) and correlate the genes in the deleted

    Qki Activates Srebp2-mediated Cholesterol Biosynthesis For

    Nature.com   DA: 14 PA: 28 MOZ Rank: 67

    Cholesterol is an essential building block of mammalian cell membranes and plays an important role in multiple cellular functions, such as membrane raft signaling transduction 1, …

    CHROMOSOME 16p13.2 DELETION SYNDROME MENDELIAN.CO

    Mendelian.co   DA: 16 PA: 46 MOZ Rank: 88

    • Incidence and onset information — Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.) — No data available about the known clinical features onset
    • 16p13.2 Microdeletion Syndrome Is also known as del(16)(p13.2), monosomy 16p13.2.

    Amazon.com: Unique Christmas Cards

    Amazon.com   DA: 14 PA: 25 MOZ Rank: 66

    • 3D Christmas Cards Pop Up Greeting Cards, Funny Unique 3D Holiday Postcards - Gifts for Xmas, Religious Boxed Merry Christmas Thank You Cards - 7 Cards & Envelopes (Christmas) 4.6 out of 5 stars

    Chromosome 15q Partial Deletion

    En.wikipedia.org   DA: 16 PA: 37 MOZ Rank: 81

    • Chromosome 15q partial deletion is a rare human genetic disorder, caused by a chromosomal aberration in which the long ("q") arm of one copy of chromosome 15 is deleted, or partially deleted
    • Like other chromosomal disorders, this increases the risk of birth defects, developmental delay and learning difficulties, however, the problems that can develop depend very much on what genetic material

    EuroGentest: Chromosome_translocations

    Eurogentest.org   DA: 19 PA: 10 MOZ Rank: 58

    Web: www.rarechromo.org Contact a Family 209-211 City Rd.,London,EC1V 1JN Helpline 0808 808 3555 or Textphone 0808 808 3556 (Freephone for parents and families, 10am-4pm Mon-Fri, 4.30pm-7.30pm Mon) Email: [email protected] Web: www.cafamily.org.uk

    Osteopathia Striata Radiology Reference Article

    Radiopaedia.org   DA: 15 PA: 29 MOZ Rank: 74

    • Osteopathia striata, also known as Voorhoeve disease, is a rare, benign sclerosing bone dysplasia, involving the epiphysis and metaphysis of tubular bones
    • Epidemiology Oseopathia striata can be found in any age group

    16p11.2 Deletion Syndrome: MedlinePlus Genetics

    Medlineplus.gov   DA: 15 PA: 45 MOZ Rank: 91

    • 16p11.2 deletion syndrome is a disorder caused by a deletion of a small piece of chromosome 16
    • The deletion occurs near the middle of the chromosome at a location designated p11.2.People with 16p11.2 deletion syndrome usually have developmental delay and intellectual disability
    • Explore symptoms, inheritance, genetics of this condition.

    DOI: De Novo Balanced Chromosome Rearrangements In

    Obgyn.onlinelibrary.wiley.com   DA: 29 PA: 24 MOZ Rank: 85

    • PRENATAL DIAGNOSIS Prenat Diagn 2009; 29: 257–265
    • Published online in Wiley InterScience (www.interscience.wiley.com) DOI: 10.1002/pd.2215 De novo balanced chromosome rearrangements in prenatal diagnosis Daniela Giardino 1*, Cecilia Corti , Lucia Ballarati 1, Daniela Colombo , Elena Sala2, Nicoletta Villa2, Giuseppe Piombo 3, Mauro Pierluigi , Francesca Faravelli , Silvana Guerneri 4

    Unique’s Instagram Profile Post: “Happy Father’s Day To

    Instagram.com   DA: 17 PA: 15 MOZ Rank: 65

    • 9 Likes, 0 Comments - Unique (@unique_charity) on Instagram: “Happy Father’s Day to all the #rarechromo dads today
    • Your support and advocacy does not go…”

    Unique On Instagram: “Individual #RareChromo Disorders

    Instagram.com   DA: 17 PA: 15 MOZ Rank: 66

    34 Likes, 1 Comments - Unique (@unique_charity) on Instagram: “Individual #RareChromo disorders affect a small number of people but together the number of people…”

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